Search our Database of Scientific Publications and Authors

I’m looking for a

    7724 results match your criteria Clinical Genetics [Journal]

    1 OF 155

    IFT80 mutations cause a novel complex ciliopathy phenotype with retinal degeneration.
    Clin Genet 2018 Jun 20. Epub 2018 Jun 20.
    Program of Genetics and Genomic Biology, SickKids Research Institute.
    Ciliopathies, a growing pleotropic class of diseases due to mutations in genes that play an important role in primary cilia function. These highly conserved organelles are key to cell signaling. We now know, that mutations in one gene may lead to more than one ciliopathy phenotype and that one ciliopathy phenotype may be due to mutations in more than one gene. Read More

    The GBA p.Trp378Gly mutation is a probable French-Canadian founder mutation causing Gaucher disease and synucleinopathies.
    Clin Genet 2018 Jun 19. Epub 2018 Jun 19.
    Montreal Neurological Institute, McGill University, Quebec, Canada.
    Biallelic GBA mutations cause Gaucher disease (GD), and heterozygous carriers are at risk for synucleinopathies. No founder GBA mutations in French-Canadians are known. GBA was fully sequenced using targeted next generation and Sanger sequencing in French-Canadian Parkinson disease (PD) patients (n=436), REM-sleep behavior disorder (RBD) patients (n=189) and controls (n=891). Read More

    How do consent forms for diagnostic high-throughput sequencing address unsolicited and secondary findings? A content analysis.
    Clin Genet 2018 Jun 10. Epub 2018 Jun 10.
    Centre for Biomedical Ethics and Law, Department of Public Health and Primary Care, KU Leuven, Leuven, Belgium.
    Whole exome and whole genome sequencing are increasingly being offered to patients in the clinical setting. Yet, the question of whether, and to what extent, unsolicited findings (UF) and/or secondary findings (SF) should be returned to patients remains open and little is known about how diagnostic consent forms address this issue. We systematically identified consent forms for diagnostic genomic sequencing online and used inductive content analysis to determine if and how they discuss reporting of UF and SF, and whether patients are given options regarding the return of these results. Read More

    Bilateral cerebellar cysts and cerebral white matter lesions with cortical dysgenesis: Expanding the phenotype of LAMB1 gene mutations.
    Clin Genet 2018 Jun 10. Epub 2018 Jun 10.
    Division of Child Neurology, Department of Brain and Neurosciences, Faculty of Medicine, Tottori University, Yonago, Japan.
    LAMB1 gene analysis should be considered for intellectually disabled patients with cerebellar cysts, white matter signal change, and cortical malformation. Muscular involvement is absent, in contrast to the α-dystroglycanopathy types of congenital muscular dystrophies. Read More

    Genotype-phenotype correlations of low frequency variants in the complement system in renal disease and age-related macular degeneration.
    Clin Genet 2018 Jun 11. Epub 2018 Jun 11.
    Department of Ophthalmology, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, the Netherlands.
    Genetic alterations in the complement system have been linked to a variety of diseases, including atypical hemolytic uremic syndrome (aHUS), C3 glomerulopathy (C3G), and age-related macular degeneration (AMD). We performed sequence analysis of the complement genes CFH, CFI, and C3 in 866 aHUS/C3G and 697 AMD patients. In total we identified 505 low frequency alleles, representing 121 unique variants, of which 51 are novel. Read More

    GPT2 mutations cause developmental encephalopathy with microcephaly and features of complicated hereditary spastic paraplegia.
    Clin Genet 2018 Jun 7. Epub 2018 Jun 7.
    University of Tübingen, Department of Neurology and Hertie-Institute for Clinical Brain Research, Tübingen, Germany.
    Various genetic defects can cause intellectual and developmental disabilities (IDD). Often IDD is a symptom of a more complex neurodevelopmental or neurodegenerative syndrome. Identifying syndromic patterns is substantive for diagnostics and for understanding the pathomechanism of a disease. Read More

    A ZPR1 mutation is associated with a novel syndrome of growth restriction, distinct craniofacial features, alopecia, and hypoplastic kidneys.
    Clin Genet 2018 May 30. Epub 2018 May 30.
    Department of Pediatrics, Division of Genetics/Dysmorphology, University of New Mexico School of Medicine, Albuquerque, New Mexico, USA.
    A novel autosomal recessive disorder characterized by pre- and post-natal growth restriction with microcephaly, distinctive craniofacial features, congenital alopecia, hypoplastic kidneys with renal insufficiency, global developmental delay, severe congenital sensorineural hearing loss, early mortality, hydrocephalus, and genital hypoplasia was observed in four children from three families of New Mexican Hispanic heritage. Three of the children died before three years of age from uremia and/or sepsis. Exome sequencing of the surviving individual identified a homozygous c. Read More

    Enrichment of Rare Copy Number Variation in Children with Developmental Language Disorder.
    Clin Genet 2018 May 30. Epub 2018 May 30.
    Department of Women and Children's Health, Center of Neurodevelopmental Disorders, Karolinska Institutet, Sweden and Centre for Psychiatry Research, Stockholm County Council, Stockholm, Sweden.
    Developmental Language Disorder (DLD) is a common neurodevelopmental disorder with largely unknown etiology. Rare copy number variants (CNVs) have been implicated in the genetic architecture of other neurodevelopmental disorders (NDDs) which have led to clinical genetic testing recommendations for these disorders; however, the evidence is still lacking for DLD. We analyzed rare and de novo CNVs in 58 probands with severe DLD, their 159 family members and 76 Swedish typically developing children using high-resolution microarray. Read More

    PPP1R21 homozygous null variants associated with developmental delay, muscle weakness, distinctive facial features, and brain abnormalities.
    Clin Genet 2018 May 28. Epub 2018 May 28.
    Division of Genetic and Metabolic Disorders, Pediatrics Department, Tawam Hospital, Al Ain, United Arab Emirates.
    We present three children with homozygous null variants in the PPP1R21 gene. A 3-year-old girl had profound developmental delay, hypotonia and weakness, poor feeding, recurrent chest infections and respiratory failure, rotatory nystagmus, absent reflexes, and a homozygous nonsense variant c.2089C>T (p. Read More

    PRUNE1-related rerlated disorder: expanding the clinical spectrum.
    Clin Genet 2018 May 24. Epub 2018 May 24.
    Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.
    Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies (NMIHBA) (OMIM #617481) is an autosomal recessive disease characterized by progressive microcephaly, plagiocephaly, hypotonia, spastic quadriparesis, global developmental delay, intellectual disability, optic features and abnormal brain MRI. NMIHBA was recently reported to be caused by PRUNE1 mutations. Eight mutations have been reported in 13 unrelated families. Read More

    Genome-wide Compound Heterozygosity analysis highlighted four novel susceptibility loci for congenital heart disease in Chinese population.
    Clin Genet 2018 May 17. Epub 2018 May 17.
    State Key Laboratory of Reproductive Medicine, Nanjing Medical University, Nanjing, China.
    Genome-wide association studies (GWASs) have achieved great success in deciphering the genetic cause of congenital heart disease (CHD). However, the heritability of CHD remains to be clarified, and numerous genetic factors responsible for occurrence of CHD are yet unclear. In this study, we performed a genome-wide search for relaxed forms of compound heterozygosity (CH) in association with CHD using our existing GWAS data including 2,265 individuals (957 CHD cases and 1,308 controls). Read More

    NR4A2 haploinsufficiency is associated with intellectual disability and autism spectrum disorder.
    Clin Genet 2018 May 16. Epub 2018 May 16.
    Genetics Department, AP-HP, Robert-Debré University Hospital, Paris, France.
    NR4A2, a member of the nuclear receptor superfamily, is involved in modulation of target gene transcription, regulating several developmental processes such as regulation of cellular homeostasis, neuronal development, inflammation and carcinogenesis. 2q24.1 deletions are extremely rare and only one patient with a de novo deletion encompassing only NR4A2 gene was reported so far. Read More

    Overlapping but distinct roles for NOTCH receptors in human cardiovascular disease.
    Clin Genet 2018 May 16. Epub 2018 May 16.
    Centre of Medical Genetics, University of Antwerp and Antwerp University Hospital, Antwerp, Belgium.
    The NOTCH signalling pathway is an essential pathway, involved in many cellular processes, including cell fate decision, cell proliferation, and cell death and important in the development of most organs. Mutations in genes encoding components of the NOTCH signalling pathway lead to a spectrum of congenital disorders. Over the past decades, mutations in human NOTCH signalling genes have been identified in several diseases with cardiovascular involvement. Read More

    Risk communication in genetic counseling: Exploring uptake and perception of recurrence numbers, and their impact on patient outcomes.
    Clin Genet 2018 May 16. Epub 2018 May 16.
    Department of Medical Genetics, University of British Columbia, Vancouver, Canada.
    Providing recurrence numbers is often considered a fundamental component of genetic counseling. We sought to fill knowledge gaps regarding how often patients actively seek recurrence numbers, and how they impact patient outcomes. We conducted a retrospective chart review at a clinic where patients routinely complete the Genetic Counseling Outcomes Scale (GCOS, measuring empowerment) pre (T1)/post (T2) appointment. Read More

    Factors associated with ATXN2 CAG/CAA repeat intergenerational instability in Spinocerebellar Ataxia type 2.
    Clin Genet 2018 May 14. Epub 2018 May 14.
    Center for Investigation and Rehabilitation of Hereditary Ataxias (CIRAH), Holguín, Cuba.
    Spinocerebellar ataxia type 2 (SCA2) is a neurodegenerative disorder caused by the unstable expansion of a CAG/CAA repeat in the ATXN2 gene, which normally encodes 22 glutamines (Q22). A large study was conducted to characterize the CAG/CAA repeat intergenerational instability in SCA2 families. Large normal alleles (LNA, Q24-31) were significantly more unstable upon maternal transmissions. Read More

    New case of bilateral pheochromocytomas involving the homozygous TMEM127 mutation.
    Clin Genet 2018 May 11. Epub 2018 May 11.
    Department of Biochemistry and Genetics, CHU Angers, Angers, France.
    Our patient represents the third case of pheochromocytoma and mental retardation involving a homozygous region in 2p11.2 with a TMEM127 variant. This rare homozygous mutation does not seem to aggravate the clinical picture of the disease compared to heterozygous mutations. Read More

    Discovery of 4 exonic and 1 intergenic novel susceptibility loci for leprosy.
    Clin Genet 2018 May 3. Epub 2018 May 3.
    Shandong Provincial Hospital for Skin Diseases, Shandong University, Jinan, China.
    Seven new risk coding variants have been identified through an exome-wide association study (EWAS), which studied the contributions of protein-coding variants to leprosy susceptibility. But some potential susceptibility loci were not studied in the previous EWAS study because of the project consideration. Seventeen unstudied potential susceptibility loci of the previous EWAS were validated in 3169 cases and 9814 controls in this study. Read More

    Atrioventricular canal defect and genetic syndromes: The unifying role of sonic hedgehog.
    Clin Genet 2018 May 3. Epub 2018 May 3.
    Department of Pediatrics, Sapienza University, Rome, Italy.
    The atrioventricular canal defect (AVCD) is a congenital heart defect (CHD) frequently associated with extracardiac anomalies (75%). Previous observations from a personal series of patients with AVCD and "polydactyly syndromes" showed that the distinct morphology and combination of AVCD features in some of these syndromes is reminiscent of the cardiac phenotype found in heterotaxy, a malformation complex previously associated with functional cilia abnormalities and aberrant Hedgehog (Hh) signaling. Hh signaling coordinates multiple aspects of left-right lateralization and cardiovascular growth. Read More

    EAST/SeSAME syndrome - review of the literature and introduction of four new Latvian patients.
    Clin Genet 2018 May 3. Epub 2018 May 3.
    Clinic for Pediatric Neurology and Neurosurgery, Childrens' Clinical University Hospital.
    EAST (Epilepsy, Ataxia, Sensorineural deafness, Tubulopathy) or SeSAME (Seizures, Sensorineural deafness, Ataxia, Mental retardation, and Electrolyte imbalance) syndrome is a rare autosomal recessive syndrome first described in 2009 independently by Bockenhauer and Scholl. It is caused by mutations in KCNJ10, which encodes Kir4.1, an inwardly rectifying K channel found in the brain, inner ear, kidney and eye. Read More

    Association between glutathione S-transferase gene M1 and T1 polymorphisms and chronic obstructive pulmonary disease risk: A meta-analysis.
    Clin Genet 2018 Apr 28. Epub 2018 Apr 28.
    Department of Respiratory Medicine, Weifang People's Hospital, Weifang, China.
    Chronic obstructive pulmonary disease (COPD) is a severe lung disease characterized by long-term breathing problems. A series of studies have indicated that the glutathione S-transferase genes M1 and T1 are associated with COPD susceptibility; however, the result still remains inconclusive. This meta-analysis was performed to estimate the effect of GSTM1 and GSTT1 polymorphisms in COPD risk. Read More

    Clinical, molecular genetics and therapeutic aspects of syndromic obesity.
    Clin Genet 2018 Apr 26. Epub 2018 Apr 26.
    Department of Medical Genetics, University of Antwerp and Antwerp University Hospital, Antwerp, Belgium.
    Obesity has become a major health problem worldwide. To date, more than 25 different syndromic forms of obesity are known in which one (monogenic) or multiple (polygenic) genes are involved. This review gives an overview of these forms and focuses more in detail on 6 syndromes: Prader Willi Syndrome and Prader Willi like phenotype, Bardet Biedl Syndrome, Alström Syndrome, Wilms tumor, Aniridia, Genitourinary malformations and mental Retardation syndrome and 16p11. Read More

    Genetic analysis of adult leukoencephalopathy patients using a custom-designed gene panel.
    Clin Genet 2018 Apr 26. Epub 2018 Apr 26.
    Department of Neurology and Stroke Medicine, Yokohama City University, Yokohama, Japan.
    Leukoencephalopathies encompass all clinical syndromes that predominantly affect brain white matter. Genetic diagnosis informs clinical management of these patients, but a large part of the genetic contribution to adult leukoencephalopathy remains unresolved. To examine this genetic contribution, we analyzed genomic DNA from 60 Japanese patients with adult leukoencephalopathy of unknown cause by next generation sequencing using a custom-designed gene panel. Read More

    Refining the phenotype associated with biallelic DNAJC21 mutations.
    Clin Genet 2018 Apr 26. Epub 2018 Apr 26.
    Service de Génétique Médicale, CHU Sainte-Justine, Montréal, Canada.
    Inherited bone marrow failure syndromes (IBMFS) are caused by mutations in genes involved in genomic stability. Although they may be recognized by the association of typical clinical features, variable penetrance and expressivity are common, and clinical diagnosis is often challenging. DNAJC21, which is involved in ribosome biogenesis, was recently linked to bone marrow failure. Read More

    Pathogenetic implication of fusion genes in acute promyelocytic leukemia and their diagnostic utility.
    Clin Genet 2018 Apr 26. Epub 2018 Apr 26.
    Department of Immunology and Molecular Medicine, Sher-I-Kashmir Institute of Medical Sciences, Srinagar, India.
    Acute promyelocytic leukemia (APL) has been recognized as a discrete subset of hematopoietic malignancies constituting approximately 10% of acute myeloid leukemia cases. The hallmark reciprocal chromosomal translocation t(15;17) involving fusion between the retinoic acid receptor (RARα) gene and promyelocytic leukemia (PML) gene is a characteristic feature in APL which consequently results in the emergence of PML-RARα chimeric gene. This gene has been substantiated to be responsible for cellular transformation and is a prime target of all-trans-retinoic acid (ATRA) as well as arsenic-trioxide (ATO) therapy. Read More

    Further audiovestibular characterization of DFNB77, caused by deleterious variants in LOXHD1, and investigation into the involvement of Fuchs corneal dystrophy.
    Clin Genet 2018 Apr 19. Epub 2018 Apr 19.
    Department of Otorhinolaryngology, Hearing & Genes, Radboud University Medical Center, Nijmegen, the Netherlands.
    This study focuses on further characterization of the audiovestibular phenotype and on genotype-phenotype correlations of DFNB77, an autosomal recessive type of hearing impairment (HI). DFNB77 is associated with disease-causing variants in LOXHD1, and is genetically and phenotypically highly heterogeneous. Heterozygous deleterious missense variants in LOXHD1 have been associated with late-onset Fuchs corneal dystrophy (FCD). Read More

    Clinical and molecular insights into Glanzmann's thrombasthenia in China.
    Clin Genet 2018 Apr 19. Epub 2018 Apr 19.
    Key Laboratory of Thrombosis & Hemostasis of Ministry of Health, Jiangsu Institute of Hematology, The First Affiliated Hospital of Soochow University, Suzhou, China.
    Glanzmann's thrombasthenia (GT) is a rare bleeding disorder characterized by spontaneous mucocutaneous bleeding. The disorder is caused by quantitative or qualitative defects in integrin αIIbβ3 (encoded by ITGA2B and ITGB3) on the platelet and is more common in consanguineous populations. However, the prevalence rate and clinical characteristics of GT in non-consanguineous populations have been unclear. Read More

    Developmental disorders with intellectual disability driven by chromatin dysregulation: Clinical overlaps and molecular mechanisms.
    Clin Genet 2018 Apr 19. Epub 2018 Apr 19.
    Laboratory of Cytogenetics and Molecular Genetics, Istituto Auxologico Italiano, Milan, Italy.
    Advances in genomic analyses based on next-generation sequencing and integrated omics approaches, have accelerated in an unprecedented way the discovery of causative genes of developmental delay (DD) and intellectual disability (ID) disorders. Chromatin dysregulation has been recognized as common pathomechanism of mendelian DD/ID syndromes due to mutation in genes encoding chromatin regulators referred as transcriptomopathies or epigenetic disorders. Common to these syndromes are the wide phenotypic breadth and the recognition of groups of distinct syndromes with shared signs besides cognitive impairment, likely mirroring common molecular mechanisms. Read More

    A founder mutation MLC1 c.736delA associated with megalencephalic leukoencephalopathy with subcortical cysts-1 in north Indian kindred.
    Clin Genet 2018 Apr 18. Epub 2018 Apr 18.
    Genomics and Molecular Medicine Unit, CSIR Institute of Genomics and Integrative Biology (CSIR-IGIB), New Delhi, India.

    Genetic variant spectrum in 265 Chinese patients with hemophagocytic lymphohistiocytosis: Molecular analyses of PRF1, UNC13D, STX11, STXBP2, SH2D1A, and XIAP.
    Clin Genet 2018 Apr 17. Epub 2018 Apr 17.
    Department of Pathology and Laboratory Medicine Division, Hebei Yanda Lu Daopei Hospital, Langfang, China.
    Hemophagocytic lymphohistiocytosis (HLH) is a rare life-threatening hyperinflammatory disease. This study aimed to investigate the frequencies and distributions of inherited variants in PRF1, UNC13D, STX11, STXBP2, SH2D1A, and XIAP genes in Chinese patients with HLH. A total of 265 patients diagnosed with HLH from January, 2010 to December, 2016 were recruited and analyzed for the 6 genes. Read More

    Polymorphisms of genes involved in inflammation and blood vessel development influence the risk of varicose veins.
    Clin Genet 2018 Apr 16. Epub 2018 Apr 16.
    Laboratory of Pharmacogenomics, Institute of Chemical Biology and Fundamental Medicine, Department of Natural Sciences, Novosibirsk State University, Moscow, Russia.
    Heredity plays an important role in the etiology of varicose veins (VVs). However, the genetic basis underlying this condition remains poorly understood. Our aim was to replicate top association signals from genome-wide association studies (GWASs) for VVs of lower extremities using 2 independent datasets-our sample of ethnic Russian individuals (709 cases and 278 controls) and a large cohort of British residents from UK Biobank (10 861 cases and 397 594 controls). Read More

    Expanding the clinical spectrum of biallelic ZNF335 variants.
    Clin Genet 2018 Apr 13. Epub 2018 Apr 13.
    Neurogenetics Research Unit, Reproduction Genetics and Regenerative Medicine, Vrije Universiteit Brussel, Brussels, Belgium.
    ZNF335 plays an essential role in neurogenesis and biallelic variants in ZNF335 have been identified as the cause of severe primary autosomal recessive microcephaly in 2 unrelated families. We describe, herein, 2 additional affected individuals with biallelic ZNF335 variants, 1 individual with a homozygous c.1399 T > C, p. Read More

    Systematic reanalysis of genomic data improves quality of variant interpretation.
    Clin Genet 2018 Jul 10;94(1):174-178. Epub 2018 May 10.
    HudsonAlpha Institute for Biotechnology, Huntsville, Alabama.
    As genomic sequencing expands, so does our knowledge of the link between genetic variation and disease. Deeper catalogs of variant frequencies improve identification of benign variants, while sequencing affected individuals reveals disease-associated variation. Accumulation of human genetic data thus makes reanalysis a means to maximize the benefits of clinical sequencing. Read More

    TASP1 is deleted in an infant with developmental delay, microcephaly, distinctive facial features, and multiple congenital anomalies.
    Clin Genet 2018 Jul 10;94(1):170-173. Epub 2018 May 10.
    Division of Genetic and Metabolic Disorders, Department of Pediatrics, Tawam Hospital, Al Ain, United Arab Emirates.
    We report a 20p12.1 homozygous deletion including exons 5-10 of the TASP1 gene in an infant with developmental delay, acquired microcephaly, distinctive facial features, and multiple congenital anomalies involving skeletal, cardiac, and renal systems. TASP1 encodes taspase 1 which is responsible for cleaving, thus activating, a number of transcription factors including the mixed lineage leukemia 1 (MLL1). Read More

    Clinical implication of FMR1 intermediate alleles in a Spanish population.
    Clin Genet 2018 Jul;94(1):153-158
    Biochemistry and Molecular Genetics Department, Hospital Clinic, Barcelona, Spain.
    FMR1 premutation carriers (55-200 CGGs) are at risk of developing Fragile X-associated primary ovarian insufficiency as well as Fragile X-associated tremor/ataxia syndrome. FMR1 premutation alleles are also associated with a variety of disorders, including psychiatric, developmental, and neurological problems. However, there is a major concern regarding clinical implications of smaller CGG expansions known as intermediate alleles (IA) or gray zone alleles (45-54 CGG). Read More

    Prevalence of BRCA1/2 large genomic rearrangements in Chinese women with sporadic triple-negative or familial breast cancer.
    Clin Genet 2018 Jul 3;94(1):165-169. Epub 2018 May 3.
    Key Laboratory of Carcinogenesis and Translational Research (Ministry of Education/Beijing), Breast Centre, Peking University Cancer Hospital & Institute, Beijing, China.
    The prevalence of BRCA1/2 large genomic rearrangements (LGRs) and their underlying mechanisms have not been fully evaluated in Chinese women with breast cancer. In this study, we determined the prevalence of BRCA1/2 LGRs in 834 patients with familial breast cancer (FBC) and 660 patients with sporadic triple-negative breast cancer (TNBC) who were negative for BRCA1/2 small-range mutations using the multiplex ligation-dependent probe amplification method. We found that 20 index patients (2. Read More

    Wiedemann-Steiner syndrome as a major cause of syndromic intellectual disability: A study of 33 French cases.
    Clin Genet 2018 Jul 17;94(1):141-152. Epub 2018 May 17.
    Service de Génétique Clinique, CHU Amiens Picardie, Amiens, France.
    Wiedemann-Steiner syndrome (WSS) is a rare syndromic condition in which intellectual disability (ID) is associated with hypertrichosis cubiti, short stature, and characteristic facies. Following the identification of the causative gene (KMT2A) in 2012, only 31 cases of WSS have been described precisely in the literature. We report on 33 French individuals with a KMT2A mutation confirmed by targeted gene sequencing, high-throughput sequencing or exome sequencing. Read More

    Children and young people's understanding of inherited conditions and their attitudes towards genetic testing: A systematic review.
    Clin Genet 2018 Mar 25. Epub 2018 Mar 25.
    Hereditary Cancer Clinic, Department of Medical Oncology, Prince of Wales Hospital, Randwick, Australia.
    Children and young people are increasingly likely to receive information regarding inherited health risks relevant to their genetic relatives and themselves. We reviewed the literature to determine what children and young people (21 years and younger) understand about inherited conditions and their attitudes towards genetic testing. We screened 1815 abstracts to identify 20 studies representing the perspectives of 1811 children and young people between the ages of 6 and 21 years (1498 children or young people at general population-level risk from 9 studies, 313 affected/at risk from 15 studies). Read More

    Single, short in-del, and copy number variations detection in monogenic dyslipidemia using a next-generation sequencing strategy.
    Clin Genet 2018 Jul 25;94(1):132-140. Epub 2018 Apr 25.
    Service de Biochimie et Biologie moléculaire Grand Est, GHE, Hospices Civils de Lyon, Bron, France.
    Optimal molecular diagnosis of primary dyslipidemia is challenging to confirm the diagnosis, test and identify at risk relatives. The aim of this study was to test the application of a single targeted next-generation sequencing (NGS) panel for hypercholesterolemia, hypocholesterolemia, and hypertriglyceridemia molecular diagnosis. NGS workflow based on a custom AmpliSeq panel was designed for sequencing the most prevalent dyslipidemia-causing genes (ANGPTL3, APOA5, APOC2, APOB, GPIHBP1, LDLR, LMF1, LPL, PCSK9) on the Ion PGM Sequencer. Read More

    Seven additional families with spondylocarpotarsal synostosis syndrome with novel biallelic deleterious variants in FLNB.
    Clin Genet 2018 Jul 14;94(1):159-164. Epub 2018 Apr 14.
    Department of Medical Genetics, Kasturba Medical College, Manipal Academy of Higher Education, Manipal, Karnataka, India.
    The location and/or type of variants in FLNB result in a spectrum of osteochondrodysplasias ranging from mild forms, like spondylocarpotarsal synostosis syndrome and Larsen syndrome, to severe perinatal lethal forms, such as atelosteogenesis I and III and Boomerang dysplasia. Spondylocarpotarsal synostosis syndrome is characterized by disproportionate short stature, vertebral anomalies and fusion of carpal and tarsal bones. Biallelic loss-of-function variants in FLNB are known to cause spondylocarpotarsal synostosis syndrome and 9 families and 9 pathogenic variants have been reported so far. Read More

    1 OF 155