83,619 results match your criteria Autosomal Dominant Polycystic Kidney Disease


[The pathway of vasopressin as a pharmacological target in nephrology: a narrative review].

G Ital Nefrol 2018 Dec;35(6)

U.O.C. Nefrologia, Università cattolica del sacro cuore. Fondazione Policlinico Universitario A. Gemelli IRCCS, Roma, Italia.

ADH is a hormone secreted by neurohypophysis that plays different roles based on the target organ. At the renal level, this peptide is capable of causing electrolyte-free water absorption, thus playing a key role in the hydro-electrolytic balance. There are pathologies and disorders that jeopardize this balance and, in this field, ADH receptor inhibitors such as Vaptans could play a key role. Read More

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December 2018

GPR126: A novel candidate gene implicated in autosomal recessive intellectual disability.

Am J Med Genet A 2018 Dec 14. Epub 2018 Dec 14.

Genetics Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran.

Intellectual disability (ID), a genetically and clinically heterogeneous disorder, affects 1%-3% of the general population and is a major health problem, especially in developing countries and in populations with a high frequency of consanguineous marriage. Using whole exome sequencing, a homozygous missense variation (c.3264G>C, p. Read More

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December 2018

A novel autosomal dominant mutation in SOX18 resulting in a fatal case of hypotrichosis-lymphedema-telangiectasia syndrome.

Am J Med Genet A 2018 Dec 14. Epub 2018 Dec 14.

Department of Pediatrics, University of California, San Diego and Rady Children's Hospital, San Diego, California.

Hypotrichosis-lymphedema-telangiectasia syndrome (HLTS) is a rare disorder caused by autosomal recessive and autosomal dominant mutations in SOX18. This gene encodes a transcription factor involved in the regulation and development of the human vasculature, lymphatic, and integumentary systems. Individuals with HLTS develop varying degrees of hypotrichosis, lymphedema, and telangiectasias. Read More

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December 2018
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Tetrasomy 18p: The challenges of noninvasive prenatal testing and combined test.

J Obstet Gynaecol Res 2018 Dec 13. Epub 2018 Dec 13.

Pediatric Highly Intensive Care Unit, Department of Pathophysiology and Transplantation, Università degli Studi di Milano, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy.

Circulating cell-free DNA, having no procedural risk of miscarriage, is the most suitable sample for a noninvasive prenatal testing (NIPT). Here we report on a boy, who came to our attention for hypotonia and psychomotor delay when he was 16 months old. During the pregnancy his mother performed a NIPT that resulted compatible with the presence of trisomy 18. Read More

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December 2018

New treatment method for mucopolysaccharidosis type VI by liver transplantation.

Pediatr Int 2018 Dec 13. Epub 2018 Dec 13.

Department of Clinical Diagnosis, National Center for Child Health and Development, Tokyo.

Background: Mucopolysaccharidosis (MPS) VI is a rare, autosomal recessive congenital metabolic disorder caused by deficient activity of the lysosomal metabolic enzyme, N-acetylgalactosamine 4-sulfatase. Enzyme replacement therapy (ERT) is current therapeutic treatment for MPS VI, while involves limited compliance to the therapy and high costs. This study aimed to develop a new method of treatment by conducting an orthotopic liver transplantation using an animal model of human MPS VI, and to evaluate and examine its effectiveness for treating MPS VI. Read More

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December 2018

Identification of ANLN as a new likely pathogenic gene of branchio-otic syndrome in a three-generation Chinese family.

Mol Genet Genomic Med 2018 Dec 11. Epub 2018 Dec 11.

Department of Otorhinolaryngology, Shanghai East Hospital, Tongji University, Shanghai, China.

Background: Branchio-oto-renal (BOR) syndrome is one of the most common autosomal dominant hearing loss syndromes and features clinical and genetic heterogeneity. When there is no renal deformity, this disease can also be called branchio-otic (BO) syndrome. Though many genes have been reported, there are still many BO syndrome-related genes to be identified. Read More

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December 2018

Identification of a de novo splicing variant in the Coffin-Siris gene, SMARCE1, in a patient with Angelman-like syndrome.

Mol Genet Genomic Med 2018 Dec 11. Epub 2018 Dec 11.

Genetics Laboratory, UDIAT-Centre Diagnòstic, Parc Taulí Hospital Universitari, Institut d'Investigació i Innovació Parc Taulí I3PT, Universitat Autònoma de Barcelona, Sabadell, Spain.

Background: Patients affected by Angelman syndrome (AS) present severe intellectual disability, lack of speech, ataxia, seizures, abnormal electroencephalography (EEG), and a characteristic behavioral phenotype. Around 10% of patients with a clinical diagnosis of AS (AS-like) do not have an identifiable molecular defect. Some of these patients harbor alternative genetic defects that present overlapping features with AS. Read More

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December 2018

A biallelic truncating AEBP1 variant causes connective tissue disorder in two siblings.

Am J Med Genet A 2018 Dec 11. Epub 2018 Dec 11.

Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg (FAU), Erlangen, Germany.

Biallelic variants in the AEBP1 gene cause a novel autosomal-recessive connective tissue disorder (CTD) reminiscent of Ehlers-Danlos Syndrome (EDS). The four previously reported individuals show considerable clinical variability. Unbiased high-throughput sequencing enables the rapid identification of additional cases for such rare entities. Read More

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December 2018

A study in a Polish ataxia cohort indicates genetic heterogeneity and points to MTCL1 as a novel candidate gene.

Clin Genet 2018 Dec 11. Epub 2018 Dec 11.

Department of Medical Genetics, Medical University of Warsaw, Warsaw, Poland.

Inherited ataxias are a group of highly heterogeneous, complex neurological disorders representing a significant diagnostic challenge in clinical practice. We performed next generation sequencing analysis in 10 index cases with unexplained progressive cerebellar ataxia of suspected autosomal recessive inheritance. A definite molecular diagnosis was obtained in 5/10 families and included the following diseases: autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS), POLR3B-related hypomyelinating leukodystrophy, primary coenzyme Q10 deficiency type 4, Niemann-Pick disease type C1 and SYNE1-related ataxia. Read More

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December 2018

Synthesis of C-labelled sulfated N-acetyl-d-lactosamines to aid in the diagnosis of mucopolysaccharidosis diseases.

J Labelled Comp Radiopharm 2018 Nov 22. Epub 2018 Nov 22.

Ferrier Research Institute, Victoria University of Wellington, Lower Hutt, New Zealand.

Morquio A syndrome is an autosomal mucopolysaccharide storage disorder that leads to accumulation of keratan sulfate. Diagnosis of this disease can be aided by measuring the levels of keratan sulfate in the urine. This requires the liquid chromatography tandem mass spectrometry (LCMS/MS) measurement of sulfated N-acetyl-d-lactosamines in the urine after cleavage of the keratan sulfate with keratanase II. Read More

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November 2018

Comorbidity among HHT patients and their controls in a 20 years follow-up period.

Orphanet J Rare Dis 2018 Dec 14;13(1):223. Epub 2018 Dec 14.

Odense Patient data Explorative Network (OPEN), Odense University Hospital/Department of Clinical Research, University of Southern Denmark, Odense, Denmark.

Background: Hereditary Haemorrhagic Telangiectasia (HHT) is an autosomal dominant genetic disorder with a wide variety of clinical manifestations due to the presence of multiple arteriovenous malformations in various tissues and organs.

Objective: To study the need for hospital admittance in a group of HHT patients and matched controls during a 20 years follow-up period commencing in 1995.

Methods: All HHT patients in the County of Funen, Denmark, were included. Read More

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December 2018

Double orifice mitral valve combined with left ventricular noncompaction in a child with Sotos syndrome.

J Cardiol Cases 2015 Mar 11;11(3):88-90. Epub 2014 Dec 11.

Department of Child Health, Faculty of Medicine, University of Tsukuba, Tsukuba, Ibaraki, Japan.

Sotos syndrome is an autosomal dominant condition, sometimes complicated with cardiovascular malformations. We report the case of a 10-year-old Japanese male with Sotos syndrome found to have double orifice mitral valve (DOMV) combined with left ventricular noncompaction (LVNC) by transthoracic echocardiography. Three-dimensional echocardiography clearly demonstrated the trabecular meshwork, two separate mitral orifices with subvalvular apparatuses, and multiple tendinous cords. Read More

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Chudley-McCullough Syndrome.

J Clin Imaging Sci 2018 15;8:45. Epub 2018 Nov 15.

Department of Radiology, Diskapi Yildirim Beyazit Training and Research Hospital, Ankara, Turkey.

Chudley-McCullough syndrome (CMS), an autosomal recessive condition first reported by Chudley et al., in 1997, comprises profound sensorineural hearing loss and specific brain abnormalities. The hearing loss may be congenital or early onset. Read More

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November 2018
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Digenic Inheritance of Shortened Repeat Units of the D4Z4 Region and a Loss-of-Function Variant in in a Family With FSHD.

Front Neurol 2018 28;9:1027. Epub 2018 Nov 28.

Molecular Genetics Laboratory UILDM, Santa Lucia Foundation, Rome, Italy.

Facioscapulohumeral muscular dystrophy (FSHD) is a neuromuscular disorder which is typically transmitted by an autosomal dominant pattern, although reduced penetrance and sporadic cases caused by mutations, are often observed. FSHD may be caused by a contraction of a repetitive element, located on chromosome 4 (4q35). This locus is named and consists of 11 to more than 100 repeated units (RU). Read More

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November 2018

27 years of prenatal diagnosis for Huntington disease in the United Kingdom.

Genet Med 2018 Dec 14. Epub 2018 Dec 14.

School of Medicine, Medical Sciences and Nutrition, University of Aberdeen, Aberdeen, UK.

Purpose: There is little long-term, population-based data on uptake of prenatal diagnosis for Huntington disease (HD), a late-onset autosomal dominant neurodegenerative disorder, and the effect of the availability of preimplantation genetic diagnosis (PGD) on families' decisions about conventional prenatal diagnosis is not known. We report trends in prenatal diagnosis and preimplantation diagnosis for HD in the United Kingdom since services commenced.

Methods: Long-term UK-wide prospective case record-based service evaluation in 23 UK Regional Genetic Centres 1988-2015, and four UK PGD centers 2002-2015. Read More

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December 2018
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Integrative system biology analyses of CRISPR-edited iPSC-derived neurons and human brains reveal deficiencies of presynaptic signaling in FTLD and PSP.

Transl Psychiatry 2018 Dec 13;8(1):265. Epub 2018 Dec 13.

Department of Psychiatry, Washington University School of Medicine, 660S. Euclid Ave. Campus Box 8134, St. Louis, MO, 63110, USA.

Mutations in the microtubule-associated protein tau (MAPT) gene cause autosomal dominant frontotemporal lobar degeneration with tau inclusions (FTLD-tau). MAPT p.R406W carriers present clinically with progressive memory loss and neuropathologically with neuronal and glial tauopathy. Read More

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December 2018
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A Novel NOTCH3 Gene Mutation in a Polish CADASIL Family.

J Stroke Cerebrovasc Dis 2018 Dec 10. Epub 2018 Dec 10.

Department of Neurology, Pomeranian Medical University, Szczecin, Poland. Electronic address:

Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CADASIL) is a genetically determined disease of the cerebral vessels, characterized by recurrent ischemic strokes, dementia, and degeneration of the cerebral white matter. The condition is caused by a mutation in the NOTCH3 gene, whose product plays a great role in the development and physiology of the cardiovascular system. Magnetic resonance imaging reveals multiple hyperintensive lesions of the white matter in the T2-weighted images also in asymptomatic carriers of CADASIL and can be detected even 10-15 years prior to clinical signs. Read More

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December 2018

Presence of tau astrogliopathy in frontotemporal dementia caused by a novel Grn nonsense (Trp2*) mutation.

Neurobiol Aging 2018 Nov 20. Epub 2018 Nov 20.

Brain Tissue Bank, Fundación CIEN, Instituto de Salud Carlos III, Madrid, Spain.

Frontotemporal lobar degeneration caused by GRN mutations is mainly associated with a TDP-43 type A proteinopathy. We present a family with autosomal dominant frontotemporal lobar degeneration caused by a novel GRN nonsense mutation (c.5G>A: p. Read More

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November 2018

An overall limited effect on the weight-of-evidence when taking STR DNA sequence polymorphism into account in kinship analysis.

Authors:
A Staadig A Tillmar

Forensic Sci Int Genet 2018 Nov 28;39:44-49. Epub 2018 Nov 28.

Department of Forensic Genetics and Forensic Toxicology, National Board of Forensic Medicine, Linköping, Sweden; Department of Clinical and Experimental Medicine, Faculty of Health Sciences, Linköping University, Linköping, Sweden.

The recent year's development of massively parallel sequencing (MPS) instruments and assays have now made it a compatible complement to the established capillary electrophoresis (CE) analysis for different forensic genetic applications. It is well known that short tandem repeat (STR) alleles of the same fragment size could have different DNA sequences. Thus, there will be an expected increase in the population genetic diversity for the present set of forensic STRs when performing the analysis with MPS technologies and taking the internal DNA sequence into account. Read More

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November 2018

Complex spatio-temporal distribution and genomic ancestry of mitochondrial DNA haplogroups in 24,216 Danes.

PLoS One 2018 13;13(12):e0208829. Epub 2018 Dec 13.

Department for Congenital Disorders, Statens Serum Institut, Copenhagen, Denmark.

Mitochondrial DNA (mtDNA) haplogroups (hgs) are evolutionarily conserved sets of mtDNA SNP-haplotypes with characteristic geographical distribution. Associations of hgs with disease and physiological characteristics have been reported, but have frequently not been reproducible. Using 418 mtDNA SNPs on the PsychChip (Illumina), we assessed the spatio-temporal distribution of mtDNA hgs in Denmark from DNA isolated from 24,642 geographically un-biased dried blood spots (DBS), collected from 1981 to 2005 through the Danish National Neonatal Screening program. Read More

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December 2018

Next-generation sequencing identifies unexpected genotype-phenotype correlations in patients with retinitis pigmentosa.

PLoS One 2018 13;13(12):e0207958. Epub 2018 Dec 13.

Department of Ophthalmology, University of Bonn, Bonn, Germany.

Retinitis pigmentosa (RP) is an inherited degenerative disease causing severe retinal dystrophy and visual impairment mainly with onset in infancy or adolescence. Targeted next-generation sequencing (NGS) has become an efficient tool to encounter the enormous genetic heterogeneity of diverse retinal dystrophies, including RP. To identify disease-causing mutations in unselected, consecutive RP patients, we conducted Sanger sequencing of genes commonly involved in the suspected genetic RP subtype, followed by targeted large-panel NGS if no mutation was identified, or NGS as primary analysis. Read More

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December 2018

Microsatellite instability in colorectal cancer: overview of its clinical significance and novel perspectives.

Clin Adv Hematol Oncol 2018 Nov;16(11):735-745

Levine Cancer Institute of the Carolinas HealthCare System, Charlotte, North Carolina.

Microsatellite instability (MSI) is a key biomarker in colorectal cancer (CRC), with crucial diagnostic, prognostic, and predictive implications. Testing for mismatch repair deficiency (MMR-D)/MSI is recommended during screening for Lynch syndrome, an autosomal-dominant hereditary disease that is characterized by germline mutations in the MMR genes and associated with an increased risk for several types of cancer. Additionally, MSI-high (MSI-H) status is associated with a better prognosis in early-stage CRC and a lack of benefit from adjuvant treatment with 5-fluorouracil in stage II disease. Read More

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November 2018

Next Generation Sequencing in Molecular Diagnosis of Lynch Syndrome - a Pilot Study Using New Stratification Criteria.

Acta Medica (Hradec Kralove) 2018 ;61(3):98-102

Department of Molecular Biology, Comenius University in Bratislava, Jessenius Faculty of Medicine in Martin, Slovakia.

The development of the new technologies such as the next-generation sequencing (NGS) makes more accessible the diagnosis of genetically heterogeneous diseases such as Lynch syndrome (LS). LS is one of the most common hereditary form of colorectal cancer. This autosomal dominant inherited disorder is caused by deleterious germline mutations in one of the mismatch repair (MMR) genes - MLH1, MSH2, MSH6 or PMS2, or the deletion in the EPCAM gene. Read More

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January 2018

Alagille syndrome: a case report.

Ann Biol Clin (Paris) 2018 Dec;76(6):675-680

Département de biochimie et génétique, CHU Angers, France.

We report the case of an infant hospitalized for neonatal anoxic ischemia in whom the diagnosis of Alagille syndrome (SAG ; MIM # 118450) was suspected in the presence of major cholestasis, cardiac malformations, suggestive facial dysmorphia, and vertebral and ocular abnormalities. This diagnosis was later confirmed by the detection of a heterozygous pathogenic variant in the gene JAG1, i.e. Read More

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December 2018

A Putative Mutation Hotspot of the AGXT Gene Associated with Primary Hyperoxaluria Type 1 in the Chinese Population.

Tohoku J Exp Med 2018 ;246(4):233-241

Department of Laboratory Animal Center, Institute of Hematology and Blood Diseases Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College.

Primary hyperoxaluria type 1 (PH1), a rare autosomal recessive disorder, is characterized by renal stones, nephrocalcinosis, and chronic kidney disease. PH1 is caused by defects in alanine glyoxylate aminotransferase (AGT, 392 amino-acid residues), which is encoded by the alanine-glyoxylate and serine-pyruvate aminotransferase (AGXT) gene. This study aimed to determine the clinical, biochemical, and mutation spectrum of patients with PH1 from mainland China. Read More

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January 2018

Complex Structural Variant Associated with Non-syndromic Canine Retinal Degeneration.

G3 (Bethesda) 2018 Dec 12. Epub 2018 Dec 12.

University of Pennsylvania.

Rod and cone photoreceptors are specialized retinal neurons that have a fundamental role in visual perception, capturing light and transducing it into a neuronal signal. Aberrant functioning of rod and/or cone photoreceptors can ultimately lead to progressive degeneration and eventually blindness. In man, many rod and rod-cone degenerative diseases are classified as forms of retinitis pigmentosa (RP). Read More

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December 2018
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Non-ossifying fibroma with a pathologic fracture in a 12-year-old girl with tricho-rhino-phalangeal syndrome: a case report.

BMC Med Genet 2018 Dec 12;19(1):211. Epub 2018 Dec 12.

Department of Endocrinology and Diabetes, The First Affiliated Hospital of Xiamen University, 55# Zhenhai Road, Xiamen, 361003, China.

Background: Tricho-rhino-phalangeal syndrome (TRPS) is a rare autosomal dominant genetic disorder characterized by distinctive craniofacial and skeletal abnormalities, while non-ossifying fibroma (NOF) is a common benign bone tumour in children and adolescents. To date, no case of TRPS coexisting with NOF has been reported. This report presents a 12-year-old girl who had the characteristic features of tricho-rhino-phalangeal syndrome and non-ossifying fibroma with a fibula fracture. Read More

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December 2018

The application of NIPT using combinatorial probe-anchor synthesis to identify sex chromosomal aneuploidies (SCAs) in a cohort of 570 pregnancies.

Mol Cytogenet 2018 3;11:59. Epub 2018 Dec 3.

1Women's Hospital, School of Medicine Zhejiang University, 1, Xueshi Road, Hangzhou Zhejiang, 310006 People's Republic of China.

Background: Non-invasive prenatal testing (NIPT) as alternative screening method had been proven to have very high sensitivity and specificity for detecting common aneuploidies such as T21, T18, and T13, with low false positive and false negative rates. Unfortunately, recent studies suggested that the NIPT achieved lower accuracy in sex chromosomal aneuploidies (SCAs) detection than autosomal aneuploidies detection. BGISEQ-500 powered by Combinatorial Probe-Anchor Synthesis (CPAS) and DNA Nanoballs (DNBs) technology that combined linear amplification and rolling circle replication to reduce the error rate while enhancing the signal. Read More

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December 2018

New Approaches to Tay-Sachs Disease Therapy.

Front Physiol 2018 20;9:1663. Epub 2018 Nov 20.

Institute of Fundamental Medicine and Biology, Kazan Federal University, Kazan, Russia.

Tay-Sachs disease belongs to the group of autosomal-recessive lysosomal storage metabolic disorders. This disease is caused by β-hexosaminidase A (HexA) enzyme deficiency due to various mutations in α-subunit gene of this enzyme, resulting in GM2 ganglioside accumulation predominantly in lysosomes of nerve cells. Tay-Sachs disease is characterized by acute neurodegeneration preceded by activated microglia expansion, macrophage and astrocyte activation along with inflammatory mediator production. Read More

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November 2018

Targeted next-generation sequencing approach for molecular genetic diagnosis of hereditary colorectal cancer: Identification of a novel single nucleotide germline insertion in adenomatous polyposis coli gene causes familial adenomatous polyposis.

Mol Genet Genomic Med 2018 Dec 6. Epub 2018 Dec 6.

Department of Colorectal Surgery, Tianjin Union Medical Center, Tianjin, China.

Background: Familial adenomatous polyposis (FAP) is an autosomal dominantly inherited disease which primarily manifested with developing adenomas or polyps in colon or rectum. It is caused by the germline mutations in adenomatous polyposis coli (APC) gene. Patients with FAP are usually manifested with "hundreds or even thousands" adenomas or polyps in colon or rectum. Read More

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December 2018

Sexually dimorphic gene expression and transcriptome evolution provides mixed evidence for a fast-Z effect in Heliconius.

J Evol Biol 2018 Dec 6. Epub 2018 Dec 6.

Department of Zoology, University of Cambridge, Cambridge, CB2 3EJ, UK.

Sex chromosomes have different evolutionary properties compared to autosomes due to their hemizygous nature. In particular, recessive mutations are more readily exposed to selection, which can lead to faster rates of molecular evolution. Here, we report patterns of gene expression and molecular evolution for a group of butterflies. Read More

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December 2018

Past and Present of Eye Movement Abnormalities in Ataxia-Telangiectasia.

Cerebellum 2018 Dec 6. Epub 2018 Dec 6.

Department of Neurology, Neurology Service, Cleveland VA Medical Center, Case Western Reserve University, 11100 Euclid Avenue, Cleveland, OH, 44110, USA.

Ataxia-telangiectasia is the second most common autosomal recessive hereditary ataxia, with an estimated incidence of 1 in 100,000 births. Besides ataxia and ocular telangiectasias, eye movement abnormalities have long been associated with this disorder and is frequently present in almost all patients. A handful of studies have described the phenomenology of ocular motor deficits in ataxia-telangiectasia. Read More

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December 2018

Polycystic kidney disease.

Nat Rev Dis Primers 2018 Dec 6;4(1):50. Epub 2018 Dec 6.

Division of Nephrology and Hypertension, Mayo Clinic, Rochester, MN, USA.

Cystic kidneys are common causes of end-stage renal disease, both in children and in adults. Autosomal dominant polycystic kidney disease (ADPKD) and autosomal recessive polycystic kidney disease (ARPKD) are cilia-related disorders and the two main forms of monogenic cystic kidney diseases. ADPKD is a common disease that mostly presents in adults, whereas ARPKD is a rarer and often more severe form of polycystic kidney disease (PKD) that usually presents perinatally or in early childhood. Read More

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December 2018

First identification of nonsense mutations in autosomal dominant focal segmental glomerulosclerosis.

Clin Sci (Lond) 2018 Dec 6. Epub 2018 Dec 6.

Department of Nephrology, 97th Hospital of PLA, Xuzhou, China

Recently, a novel heterozygous missense mutation c.T1421G (p. L474R) in the gene encoding podocalyxin, was identified in an autosomal dominant focal segmental glomerulosclerosis (AD-FSGS) pedigree. Read More

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December 2018

Cost-effectiveness Analysis of Routine Screening Using Massively Parallel Sequencing for Maturity-Onset Diabetes of the Young in a Pediatric Diabetes Cohort: Reduced Health System Costs and Improved Patient Quality of Life.

Diabetes Care 2018 Dec 6. Epub 2018 Dec 6.

Institute of Health and Biomedical Innovation, Faculty of Health, Queensland University of Technology, Translational Research Institute, Woolloongabba, Queensland, Australia

Objective: Maturity-onset diabetes of the young (MODY) is an autosomal dominant form of diabetes, with multiple causative genes. Some MODY subtypes can be treated with sulfonylureas instead of insulin, improving glycemic control, complication rates, quality of life (QoL), and costs. Using massively parallel sequencing (MPS), we recently determined the prevalence of pathogenic/likely pathogenic MODY variants in an Australian pediatric diabetes cohort. Read More

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December 2018

The spinal and cerebral profile of adult spinal-muscular atrophy: A multimodal imaging study.

Neuroimage Clin 2018 Nov 28. Epub 2018 Nov 28.

Sorbonne Université, CNRS, INSERM, Laboratoire d'Imagerie Biomédicale, Paris, France; APHP, Département de Neurologie, Hôpital Pitié-Salpêtrière, Centre référent SLA, Paris, France; Northern Ireland Centre for Stratified Medicine, Biomedical Sciences Research Institute Ulster University, C-TRIC, Altnagelvin Hospital, Derry, Londonderry, United Kingdom. Electronic address:

Spinal muscular atrophy (SMA) type III and IV are autosomal recessive, slowly progressive lower motor neuron syndromes. Nevertheless, wider cerebral involvement has been consistently reported in mouse models. The objective of this study is the characterisation of spinal and cerebral pathology in adult forms of SMA using multimodal quantitative imaging. Read More

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November 2018

Trichorhinophalangeal syndrome.

Reumatol Clin 2018 Dec 3. Epub 2018 Dec 3.

Servicio de Inmunología, Hospital Clinic, Barcelona, España.

Trichorhinophalangeal syndrome I (TPRSI) has an autosomal dominant inheritance; the proportion of «de novo» cases is unknown. It is characterized by unique facial features, bulbous nose, flat and elongated nasolabial furrow, thin hair and slow growth. Skeletal abnormalities that include short phalanges and metacarpals -brachydactyly-, cone-shaped epiphyses, hip dysplasia and short stature. Read More

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December 2018

[Cavernoma complicated with biliopatia secondary to type 1 Gaucher disease: report of a Peruvian case].

Rev Gastroenterol Peru 2018 Jul-Sep;38(3):280-284

Facultad de Medicina Humana, Universidad Nacional San Luis Gonzaga. Ica, Perú; Sociedad Científica de Estudiantes de Medicina de Ica (SOCEMI). Ica, Perú.

Gaucher disease is an autosomal recessive lysosomal storage disorder characterized by deficiency of beta-glucosidase that would lead to the accumulation of glucosylceramide mainly in cells of the mononuclear phagocytic system causing systemic effectations. We present a patient of twenty years who is suffering from chronic pain in the left hypochondrium with episodes of bleeding for 3 years and sensation of thermal rise, physical examination revealed jaundice and massive splenomegaly, without neurological involvement. Severe osteoporosis, pancytopenia, and the presence of portal vein thrombosis with cavernomatous transformation complicated by portal biliopathy simulating a klatskin tumor, marrow and enzymatic studies were compatible with Gaucher disease, were shown as unexpected findings. Read More

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December 2018

The Epidemiology of Otosclerosis in a British Cohort.

Otol Neurotol 2019 Jan;40(1):22-30

University College London Ear Institute, University College London.

Objective: To analyse the epidemiology of otosclerosis in a British cohort collected between 2011 and 2017.

Design: Retrospective cohort study.

Setting: Five UK ENT Departments. Read More

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January 2019

Does an ear deformity bring an adverse impact on quality of life of Treacher Collins syndrome individuals?

Cien Saude Colet 2018 Dec;23(12):4311-4318

Sociedade Brasileira de Pesquisa e Assistência para Reabilitação Craniofacial. Campinas SP Brasil.

Treacher Collins syndrome (TCS) is an autosomal dominant disorder with variable expression in which the ear may or may not be absent or with a malformation. Individuals with TCS suffer social stigma that may affect interaction with their peers. Quality of life instruments obtained through self-perception questionnaires are stigma identification tools and can enable social adjustment of these individuals. Read More

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December 2018

Novel codon 15 RHO gene mutation associated with retinitis pigmentosa.

Int Med Case Rep J 2018 20;11:339-344. Epub 2018 Nov 20.

Department of Ophthalmology, Federal Health Sciences University of Porto Alegre, Porto Alegre, Brazil,

Objective: To describe, in a multimodal way, a new RHO gene mutation with lysine-for-asparagine substitution in autosomal dominant retinitis pigmentosa.

Methods: Case report. Retrospective data analysis. Read More

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November 2018
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A novel de novo mutation in a patient with Holt-Oram syndrome.

Appl Clin Genet 2018 23;11:157-162. Epub 2018 Nov 23.

Center for Research on Congenital Anomalies and Rare Diseases (CIACER), Department of Basic Medical Sciences, Universidad Icesi, Cali, Valle del Cauca, Colombia,

Holt-Oram syndrome (HOS) is an autosomal dominant disorder characterized by congenital cardiac defects and congenital deformities of the upper limbs. Herein, we report the case of a 2-year-old patient presenting with clinical diagnostic criteria of HOS with interatrial and interventricular communication associated with hip dysplasia and upper limb reduction composed of radial ray anomaly. A novel de novo, potentially pathogenic variant in the gene at NM_181486. Read More

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November 2018

ATP13A2 facilitates HDAC6 recruitment to lysosome to promote autophagosome-lysosome fusion.

J Cell Biol 2018 Dec 11. Epub 2018 Dec 11.

Institute of Molecular Precision Medicine, Xiangya Hospital and Center for Medical Genetics, Central South University, Changsha, Hunan, China

Mutations in cause Kufor-Rakeb syndrome, an autosomal recessive form of juvenile-onset atypical Parkinson's disease (PD). Recent work tied to autophagy and other cellular features of neurodegeneration, but how ATP13A2 governs numerous cellular functions in PD pathogenesis is not understood. In this study, the ATP13A2-deficient mouse developed into aging-dependent phenotypes resembling those of autophagy impairment. Read More

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December 2018
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9.834 Impact Factor

Right-sided cervical aortic arch in Loeys-Dietz syndrome.

J Cardiol Cases 2015 Feb 22;11(2):60-61. Epub 2014 Nov 22.

Department of Echocardiography, Day General Hospital, Tehran, Iran.

Loeys-Dietz syndrome is an autosomal dominant connective tissue disorder that is characterized by skeletal abnormalities, craniofacial malformations, and predisposition for aortic aneurysm with tortuosity. We report a case of a right-sided cervical aortic arch associated with the Loeys-Dietz syndrome. To the best of our knowledge, this combination has not been described in the literature. Read More

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February 2015
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Undescribed mutations in FBN1 gene in two family cases of Marfan syndrome.

J Cardiol Cases 2014 Dec 26;10(6):235-237. Epub 2014 Sep 26.

Lorgen G.P., PT, Ciencias de la Salud - BIC, Granada, Spain.

Marfan syndrome (MFS) is a multisystem autosomal dominant heritable disorder and, although there are over 1700 mutations that have been identified in the fibrillin-1 (FBN1) gene associated with it, there are many variants that remain unknown. Here we report two family cases of MFS with two new undescribed variations (C914S and H2426C) in FBN1 gene. Both variations produce alterations in the structural conformation of the protein resulting in pathogenic events in these patients. Read More

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December 2014

Abdominal paradox encountered in neuromuscular disease: A possible clue for cor pulmonale.

J Cardiol Cases 2013 Mar 1;7(3):e71-e73. Epub 2013 Feb 1.

Division of Cardiology, Department of Internal Medicine, Korea University Guro Hospital, Korea University College of Medicine, 80, Guro-2-dong, Guro-gu, Seoul 152 703, Korea.

Oculopharyngeal muscular dystrophy (OPMD) is an uncommon autosomal dominant disorder that has been characterized by slow progression. Neuromuscular disease is one of several etiologies of pulmonary volume restriction from extrinsic or parenchymatous causes and can lead to pulmonary hypertension and right-sided heart failure, which is consistent with cor pulmonale. Here we describe a case of an OPMD patient with cor pulmonale that was reversed using mechanically-assisted ventilation. Read More

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The case of 17-year-old male with LEOPARD syndrome.

J Cardiol Cases 2013 Feb 4;7(2):e37-e41. Epub 2012 Dec 4.

Department of Myocardial Dysfunction and Heart Failure, B.V. Petrovsky Russian Research Centre of Surgery RAMS, 119991, Abrikosovky per, 6, Moscow, Russia.

LEOPARD syndrome is a phenotypic expression of mutations in several genes: PTPN11, RAF1, and BRAF. All these genes are responsible for Ras/MARK signaling pathway, which are important for cell cycle regulation, differentiation, growth, and aging. Mutations result in anomalies of skin, skeletal, and cardiovascular systems. Read More

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February 2013
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A Novel Variant of the FZD4 Gene in a Chinese Family Causes Autosomal Dominant Familial Exudative Vitreoretinopathy.

Cell Physiol Biochem 2018 11;51(5):2445-2455. Epub 2018 Dec 11.

Key Laboratory of Epigenetics and Oncology, the Research Center for Preclinical Medicine, Southwest Medical University, Luzhou,

Background/aims: Familial exudative vitreoretinopathy (FEVR) is a complex hereditary eye disorder characterized by incomplete development of the retinal vasculature, thereby affecting retinal angiogenesis.

Methods: In this study, a Chinese autosomal dominant FEVR pedigree was recruited. Ophthalmic examinations were performed, targeted next-generation sequencing was used to identify the causative gene, and Sanger sequencing was conducted to verify the candidate mutation. Read More

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December 2018
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Sclerosing bone dysplasias with hallmarks of dysosteosclerosis in four patients carrying mutations in SLC29A3 and TCIRG1.

Bone 2018 Dec 8. Epub 2018 Dec 8.

Institut für Medizinische Genetik und Humangenetik, Charité - Universitätsmedizin Berlin, Freie Universität Berlin, Humboldt-Universität zu Berlin, and Berlin Institute of Health, Berlin, Germany; Max Planck Institute for Molecular Genetics, Berlin, Germany; Berlin-Brandenburg Center for Regenerative Therapies, Charité - Universitätsmedizin Berlin, Freie Universität Berlin, Humboldt-Universität zu Berlin, and Berlin Institute of Health, Berlin, Germany. Electronic address:

The osteopetroses and related sclerosing bone dysplasias can have a broad range of manifestations. Especially in the milder forms, sandwich vertebrae are an easily recognizable and reliable radiological hallmark. We report on four patients from three families presenting with sandwich vertebrae and platyspondyly. Read More

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December 2018
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