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    7663 results match your criteria Clinical Genetics [Journal]

    1 OF 154

    Molecular and clinical studies in eight patients with Temple syndrome.
    Clin Genet 2018 Feb 22. Epub 2018 Feb 22.
    Institut für Humangenetik, Universitätsklinikum Essen, Universität Duisburg-Essen, Essen, Germany.
    Temple syndrome (TS14, #616222) is a rare imprinting disorder characterised by phenotypic features including pre- and postnatal growth retardation, muscular hypotonia and feeding difficulties in infancy, early puberty and short stature with small hands and feet and often truncal obesity. It is caused by maternal uniparental disomies, paternal deletions and primary imprinting defects that affect the chromosomal region 14q32 and lead to a disturbed expression of imprinted genes in this region. Here we present detailed clinical data of eight patients with Temple syndrome, four with an imprinting defect, two with an imprinting defect in a mosaic state as well as one complete and one segmental maternal uniparental disomy of chromosome 14. Read More

    Truncating variants of the DLG4 gene are responsible for intellectual disability with marfanoid features.
    Clin Genet 2018 Feb 20. Epub 2018 Feb 20.
    Reference Center for Developmental Anomalies, Department of Medical Genetics, Dijon University Hospital, Dijon, France.
    Marfanoid habitus (MH) combined with intellectual disability (ID) is a genetically and clinically heterogeneous group of overlapping disorders. We performed exome sequencing in 33 trios and 31 single probands to identify novel genes specific to MH-ID. After the search for variants in OMIM genes and non-OMIM genes with classical approaches, we searched for variants in non-disease-causing genes whose pLI was above 0. Read More

    Expanding the histopathological spectrum of CFL2-related myopathies.
    Clin Genet 2018 Feb 19. Epub 2018 Feb 19.
    Neuromuscular Diseases, Genetics and Rare Diseases Research Division, Bambino Gesù Children's Hospital, Rome, Italy.
    Congenital myopathies (CMs) caused by mutation in cofilin-2 gene (CFL2) show phenotypic heterogeneity ranging from early onset and rapid progressive forms to milder myopathy. Muscle histology is also heterogeneous showing rods and /or myofibrillar changes. Here, we report on three new cases, from two unrelated families, of severe CM related to novel homozygous or compound heterozygous loss-of-function mutations in CFL2. Read More

    INTU-related oral-facial-digital syndrome type VI: a confirmatory report.
    Clin Genet 2018 Feb 16. Epub 2018 Feb 16.
    Department of Genetics, APHP-Robert Debré University Hospital, Paris, France.
    Oral-facial-digital (OFD) syndromes are a subgroup of ciliopathies distinguished by the co-occurrence of hamartomas and/or multiple frenula of the oral region and digital anomalies. Several clinical forms of OFD are distinguished by their associated anomalies and/or inheritance patterns, and at least 20 genetic types of OFD have been delineated. We describe here a child with preaxial and postaxial polydactyly, lingual hamartoma, a congenital heart defect, delayed development and cerebellar peduncles displaying the molar tooth sign. Read More

    Genetic Investigation of 93 Families with Microphthalmia or Posterior Microphthalmos.
    Clin Genet 2018 Feb 16. Epub 2018 Feb 16.
    Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.
    Microphthalmia is a developmental eye defect that is highly variable in severity and in its potential for systemic association. Despite the discovery of many disease genes in microphthalmia, at least 50% of patients remain undiagnosed genetically. Here, we describe a cohort of 147 patients (93 families) from our highly consanguineous population with various forms of microphthalmia (including the distinct entity of posterior microphthalmos) that were investigated using a next-generation sequencing multi-gene panel (i-panel) as well as whole exome sequencing (WES) and molecular karyotyping. Read More

    A B3GALT6 variant in patient originally described as Al-Gazali syndrome and implicating the ER quality control in the mechanism of some β3GalT6-pathy mutations.
    Clin Genet 2018 Feb 14. Epub 2018 Feb 14.
    Department of Paediatrics, College of Medicine and Heath Sciences, United Arab Emirates University, Al-Ain, UAE.
    Al-Gazali syndrome encompasses several clinical features including prenatal growth retardation, large joints contractures with camptodactyly, bilateral talipes equinovarus, small mouth, anterior segment anomalies of the eyes, and early lethality. Recently, a baby with features very similar to Al-Gazali syndrome was found to have compound heterozygous variants in B3GALT6. This gene encodes Beta-1,3-galactosyltransferase 6 (β3GalT6), an essential component of the glycosaminoglycan synthesis pathway. Read More

    Exome sequencing reveals three homozygous missense variants in SNRPA in two sisters with syndromic intellectual disability.
    Clin Genet 2018 Feb 13. Epub 2018 Feb 13.
    Universidad Autónoma de Nuevo León, Facultad de Medicina, Departamento de Bioquímica y Medicina Molecular, Monterrey, N.L., México.
    Splicing-related gene mutations might affect the expression of a single gene or multiple genes and cause clinically heterogeneous diseases. With the advent of next-generation sequencing, several splicing gene mutations have been exposed, yet most major spliceosome genes have no reports of germline mutations and therefore, their effects are largely unknown. We describe the previously unreported concurrence of intellectual disability, short stature, poor speech, and minor craniofacial and hand anomalies in two female siblings with three homozygous missense variants in SNRPA (a component of the U1 small nuclear ribonucleoprotein complex) characterized by homozygosity mapping and whole exome sequencing. Read More

    Cancer gene-panel testing identifies two loss-of-function alleles in PALB2 and PTEN.
    Clin Genet 2018 Feb 11. Epub 2018 Feb 11.
    Medical Oncology Unit, Department of Internal Medicine, Attikon University Hospital, National and Kapodistrian University of Athens, Athens, Greece.
    Synchronous loss-of-function mutations in the cancer predisposing genes, PTEN and PALB2 identified by multigene panel. Read More

    Intrafamiliar clinical variability of Circumferential Skin Creases Kunze Type caused by a novel heterozygous mutation of N-terminal TUBB gene.
    Clin Genet 2018 Feb 10. Epub 2018 Feb 10.
    Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, IRCCS, Rome, Italy.
    Circumferential skin creases Kunze type (CSC-KT; OMIM 156610, 616734) is a rare disorder characterized by folding of excess skin, which leads to ringed creases, known as Michelin Tyre Baby Syndrome (MTBS). CSC-KT patients also exhibit facial dysmorphism, growth retardation, intellectual disability (ID) and multiple congenital malformation. Recently, two heterozygous mutations in TUBB gene and four mutations (both homozygous and heterozygous) in MAPRE2 gene were identified in 3 and 4 CSC-KT patients, respectively. Read More

    Characteristics of genetic diseases in consanguineous populations in the genomic era: lessons from Arab communities in North Israel.
    Clin Genet 2018 Feb 10. Epub 2018 Feb 10.
    The Genetic Institute Emek Medical Center Afula, Rappaport Faculty of Medicine, Haifa, Israel.
    The health outcome of consanguineous/endogamous unions is an increased risk of autosomal recessive disorders in their progeny. This manuscript is focused on consanguineous/endogamous populations living in North Israel. Molecular tools show that spouses' relatedness and hence their risks for congenital diseases among offspring are often greater than the risk calculated on the basis of reported pedigrees. Read More

    Genetic and Clinical Findings in a Chinese Cohort of Patients with collagen VI-Related Myopathies.
    Clin Genet 2018 Feb 8. Epub 2018 Feb 8.
    Department of Pediatrics, Peking University First Hospital, Beijing, China.
    Collagen VI-related myopathy, caused by pathogenic variants in the genes encoding collagen VI, represents a clinical continuum from Ullrich congenital muscular dystrophy (UCMD) to Bethlem myopathy (BM). Clinical data of 60 probands and their family members were collected and muscle biopsies of 26 patients were analyzed. COL6A1, COL6A2 and COL6A3 exons were analyzed by direct sequencing or next generation sequencing (NGS). Read More

    Rare, genetically conditioned forms of rickets - differential diagnosis and advances in diagnostics and treatment.
    Clin Genet 2018 Feb 8. Epub 2018 Feb 8.
    Department of Propedeutics Pediatrics and Bone Metabolic Diseases, Medical University of Lodz.
    Apart from the classic forms of rickets, there are rare genetic disorders from the group of vitamin D-resistant rickets where the clinical picture is very similar to the classic forms. Diagnosis of genetically conditioned rickets is often delayed. It is very important to know that a disorder of genetic background may be the cause of the failure of classic treatment in patients with rachitic symptoms. Read More

    Phenotypic Characterization of KCTD3-related Developmental Epileptic Encephalopathy.
    Clin Genet 2018 Feb 6. Epub 2018 Feb 6.
    Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.
    The association between KCTD3 gene and neurogenetic disorders has only been published recently. In this report, we describe the clinical phenotype associated with two pathogenic variants in KCTD3 gene. Seven individuals (including one set of monozygotic twin) from four consanguineous families presented with developmental epileptic encephalopathy, global developmental delay, central hypotonia, progressive peripheral hypertonia, and variable dysmorphic facial features. Read More

    Spectrum of APC and MUTYH germ-line mutations in Russian patients with colorectal malignancies.
    Clin Genet 2018 Feb 6. Epub 2018 Feb 6.
    N.N. Petrov Institute of Oncology, St.-Petersburg, Russia.
    Distribution of cancer-predisposing mutations demonstrates significant interethnic variations. This study aimed to evaluate patterns of APC and MUTYH germ-line mutations in Russian patients with colorectal malignancies. APC gene defects were identified in 26/38 (68%) subjects with colon polyposis; 8/26 (31%) APC mutations were associated with two known mutational hotspots (p. Read More

    Novel NALCN biallelic truncating mutations in siblings with IHPRF1 syndrome.
    Clin Genet 2018 Feb 5. Epub 2018 Feb 5.
    Institute of Genetic and Biomedical Research, National Research Council (CNR), Cagliari, Italy.
    Infantile hypotonia with psychomotor retardation and characteristic facies-1 (IHPRF1) is a severe autosomal recessive neurologic disorder with onset at birth or in early infancy. It is caused by mutations in the NALCN gene that encodes a voltage-independent, cation channel permeable to NM, Kand Caand forms a channel complex with UNCSO and UNC79. So far, only 4 homozygous mutations have been found in 11 cases belonging to 4 independent consanguineous families. Read More

    SAAMP 2.0: an algorithm to predict genotype-phenotype correlation of lysosomal storage diseases.
    Clin Genet 2018 Feb 2. Epub 2018 Feb 2.
    Gene Therapy Center, Department of Pediatrics.
    Lysosomal storage diseases (LSDs) are a group of genetic disorders, resulting from deficiencies of lysosomal enzyme. Genotype-phenotype correlation is essential for timely and proper treatment allocation. Recently, by integrating prediction outcomes of 7 bioinformatics tools, we developed a SAAMP algorithm to predict the impact of individual amino acid substitution. Read More

    Worldwide distribution of common IDUA pathogenic variants.
    Clin Genet 2018 Feb 2. Epub 2018 Feb 2.
    Gene Therapy Center, Hospital de Clínicas de Porto Alegre, Porto Alegre, Brazil.
    Mucopolysaccharidosis type I (MPS I) is a rare disorder caused by deleterious sequence variants in the α-L-iduronidase (IDUA) gene. More than 200 pathogenic variants have been described so far, but their frequencies have not yet been analysed on a worldwide scale. To address this, we analysed the genotypes of MPS I patients from thirty-five published studies papers. Read More

    Lack of clear and univocal genotype-phenotype correlation in Familial Mediterranean Fever patients: A systematic review.
    Clin Genet 2018 Feb 2. Epub 2018 Feb 2.
    Department of Pediatric, University of Messina, Messina, Italy.
    Familial Mediterranean fever (FMF) is the most common autosomal recessive autoinflammatory disease. To date, following the isolation of more than 280 MEFV sequence variants, the genotype-phenotype correlation in FMF patients has been intensively investigated, however, an univocal and clear consensus has not been yet reached. Thus, the aim of this systematic review was to analyse the available literature findings in order to provide to scientific community an indirect estimation of the impact of genetic factors on the phenotypic variability of FMF. Read More

    De novo variants in CDK13 associated with syndromic ID/DD; molecular and clinical delineation of 15 individuals and a further review.
    Clin Genet 2018 Feb 2. Epub 2018 Feb 2.
    Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.
    De novo variants in the gene encoding cyclin-dependent kinase 13 (CDK13) have been associated with congenital heart defects and intellectual disability (ID). Here, we present the clinical assessment of fifteen individuals and report novel de novo missense variants within the kinase domain of CDK13. Furthermore, we describe two nonsense variants and a recurrent frame-shift variant. Read More

    Expanding the clinical and genetic spectra of NKX6-2-related disorder.
    Clin Genet 2018 Feb 1. Epub 2018 Feb 1.
    Centogene AG, Rostock, Germany.
    Hypomyelinating leukodystrophies (HLDs) affect the white matter of the central nervous system, and manifest as neurological disorders. They are genetically heterogeneous. Very recently, biallelic variants in NKX6-2 have been suggested to cause a novel form of autosomal recessive HLD. Read More

    Disclosure of Cardiac Variants of Uncertain Significance Results in an Exome Cohort.
    Clin Genet 2018 Jan 31. Epub 2018 Jan 31.
    Medical Genomics and Metabolic Genetics Branch, National Human Genome Research Institute, NIH, Bethesda, Maryland.
    This study examined the impact of disclosing sub-classifications of genetic variants of uncertain significance (VUS) on behavioral intentions. We studied return of VUS results to 79 individuals with a cardiomyopathy-associated VUS, sub-classified into VUS-high or VUS-low. Primary outcomes were perceived risk (absolute and comparative), perceived severity, perceived value of information, self-efficacy, decision regret, and behavioral intentions to share results and change behaviors. Read More

    Three-dimensional genome architecture in health and disease.
    Clin Genet 2018 Jan 29. Epub 2018 Jan 29.
    Université Paris Diderot, Paris, France.
    More than a decade of massive DNA sequencing efforts has generated a large body of genomic, transcriptomic and epigenomic information that has provided a more and more detailed view of the functional elements and transactions within the human genome. Considerable efforts have also focused on linking these elements with one another by mapping their interactions and by establishing 3D genomic landscapes in various cell and tissue types. In parallel, multiple studies have associated genomic deletions, duplications and other rearrangements with human pathologies. Read More

    Intellectual developmental disorder with cardiac arrhythmia syndrome in a child with compound heterozygous GNB5 variants.
    Clin Genet 2018 Jan 25. Epub 2018 Jan 25.
    Division of Medical Genetics, IRCCS Casa Sollievo della Sofferenza, San Giovanni Rotondo, Foggia, Italy.
    Identification of a novel compound heterozygous of GNB5 in a patient with intellectual developmental disorder with cardiac arrhytmia (IDDCA), from non-consaguineous family. Three-dimensional modelling and in silico predictions suggest that GNB5 variants are causative of the phenotype, extending the number of IDDCA patients so far identified. Read More

    WNT10B mutations associated with isolated dental anomalies.
    Clin Genet 2018 Jan 24. Epub 2018 Jan 24.
    School of Chemistry, Institute of Science, and Center for Biomolecular Structure, Function and Application, Suranaree University of Technology, Nakhon Ratchasima, Thailand.
    Isolated hypodontia is the most common human malformation. It is caused by heterozygous variants in various genes, with heterozygous WNT10A variants being the most common cause. WNT10A and WNT10B are paralogs that likely evolved from a common ancestral gene after its duplication. Read More

    Autosomal dominant myopia associated to a novel P4HA2 missense variant and defective collagen hydroxylation.
    Clin Genet 2018 Jan 24. Epub 2018 Jan 24.
    Neurology Clinic II, Department of Medical Sciences, Surgery, Neurology, Metabolic Diseases and Geriatrics, University of Campania Luigi Vanvitelli, Naples, Italy.
    We recently described a complex multisystem syndrome in which mild-moderate myopia segregated as an independent trait. A plethora of genes has been related to sporadic and familial myopia. More recently, in Chinese patients severe myopia (MYP25, OMIM:617238) has been linked to mutations in P4HA2 gene. Read More

    NDUFAF3 variants that disrupt mitochondrial complex I assembly may associate with cavitating leukoencephalopathy.
    Clin Genet 2018 Jan 17. Epub 2018 Jan 17.
    Department of Neuromuscular Research, National Institute of Neuroscience, NCNP, Tokyo, Japan.
    Genetic abnormalities in mitochondrial complex assembling factors are associated with leukoencephalopathy. We present a 1-year-old girl with consciousness disturbance after a respiratory infection. Brain MRI revealed leukoencephalopathy with bilaterally symmetrical hyperintensity in the substantia nigra, medial thalamic nuclei, and basal nuclei, as well as cavities in the cerebral white matter and corpus callosum. Read More

    Expanding the phenotype of SLC25A42-associated mitochondrial encephalomyopathy.
    Clin Genet 2018 Jan 12. Epub 2018 Jan 12.
    Department of Genetics, King Faisal Specialist Hospital and Research Center. Department of Anatomy and Cell Biology, College of Medicine, Alfaisal University, Riyadh, Saudi Arabia.
    SLC25A42 gene encodes an inner mitochondrial membrane protein that imports Co-enzyme A (CoA) into the mitochondrial matrix. A mutation in this gene was recently reported in a subject born to consanguineous parents who presented with mitochondrial myopathy with muscle weakness and lactic acidosis. In this report, we present 12 additional individuals with the same founder mutation who presented with variable manifestations ranging from asymptomatic lactic acidosis to a severe phenotype characterized by developmental regression and epilepsy. Read More

    Genetics of patella hypoplasia/agenesis.
    Clin Genet 2018 Jan 11. Epub 2018 Jan 11.
    Univ. Lille, Lille, France.
    The patella is a sesamoid bone, crucial for knee stability. When absent or hypoplastic, recurrent knee subluxations, patello-femoral dysfunction and early gonarthrosis may occur. Patella hypoplasia/agenesis may be isolated or observed in syndromic conditions, either as the main clinical feature (Nail-Patella syndrome, Small Patella syndrome), as a clue feature which can help diagnosis assessment, or as a background feature that may be disregarded. Read More

    UK Families with Children with Rare Chromosome Disorders: Changing Experiences of Diagnosis and Counseling (2003 to 2013).
    Clin Genet 2018 Jan 10. Epub 2018 Jan 10.
    Department of Clinical Genetics, Karolinska University Hospital, Stockholm, Sweden.
    The latest United Kingdom (UK) strategy for rare diseases emphasises the need to empower affected populations to improve diagnosis, intervention, and coordination of care. Families who have a child with a rare chromosome disorder (RCD) are a challenging group to include. We report the findings of two large-scale surveys, undertaken by the UK RCD Support Group Unique, of these families' experiences over a ten year period. Read More

    Identification of a single MPV17 nonsense-associated altered splice variant in 24 South African infants with mitochondrial neurohepatopathy.
    Clin Genet 2018 Jan 10. Epub 2018 Jan 10.
    Department of Pathology, Division of Chemical Pathology, Groote Schuur and Red Cross War Memorial Children's Hospital, University of Cape Town and National Health Laboratory Service, Cape Town, South Africa.
    MPV17-related mitochondrial neurohepatopathy is a rare genetic disorder worldwide. We report on a novel pathogenic variant in the MPV17 gene in 24 unrelated neurohepatopathic infants of non-consanguineous Black South African heritage. Exome sequencing identified homozygosity for a c. Read More

    Patient actions and reactions after receiving negative results from expanded carrier screening.
    Clin Genet 2018 Jan 2. Epub 2018 Jan 2.
    Center for Health Research, Kaiser Permanente Northwest, Portland, OR.
    With the expansion of carrier screening to general preconception and prenatal patient populations, most patients will receive negative results, which we define as indicating <25% risk of having a child with a genetic condition. Because there is limited experience with expanded carrier screening, it is important to understand how receiving negative results affects patients, especially as providers, payers, and policymakers consider whether to offer it. In this mixed-methods study, we asked preconception patients enrolled in the NextGen study about their expectations and experiences receiving negative expanded carrier screening results. Read More

    The Changing Landscape of Lynch Syndrome due to PMS2 Mutations.
    Clin Genet 2017 Dec 29. Epub 2017 Dec 29.
    Mitchell Cancer Institute, The University of South Alabama, United States.
    DNA repair pathways are essential for cellular survival as our DNA is constantly under assault from both exogenous and endogenous DNA damaging agents. Five major mammalian DNA repair pathways exist within a cell to maintain genomic integrity. Of these, the DNA mismatch repair (MMR) pathway is highly conserved among species and is well documented in bacteria. Read More

    Homozygous TMEM127-mutations in two patients with bilateral pheochromocytomas.
    Clin Genet 2017 Dec 28. Epub 2017 Dec 28.
    Department of Endocrinology and Metabolic Diseases, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands.
    Pheochromocytoma (PCC) and paraganglioma (PGL) are rare neuroendocrine tumors that are hereditary in up to 50% of patients. The gene encoding transmembrane-protein-127 (TMEM127) is one of the PCC/PGL susceptibility genes with an autosomal dominant inheritance pattern. Here we report two patients with bilateral PCC who both harbored a homozygous TMEM127-mutation. Read More

    Diagnostic exome sequencing in children: A survey of parental understanding, experience and psychological impact.
    Clin Genet 2017 Dec 20. Epub 2017 Dec 20.
    Division of Clinical Genetics, Department of Pediatrics, Columbia University Medical Center, New York, NY.
    Clinical exome sequencing (CES) is increasingly being used as an effective diagnostic tool in the field of pediatric genetics. We sought to evaluate the parental experience, understanding and psychological impact of CES by conducting a survey study of English-speaking parents of children who had diagnostic CES. Parents of 192 unique patients participated. Read More

    Leucocytes Mutation load Declines with Age in Carriers of the m.3243A>G Mutation. A 10-year Prospective Cohort.
    Clin Genet 2017 Dec 20. Epub 2017 Dec 20.
    Dept. of Clinical Genetics, Odense University Hospital, Odense, Denmark.
    Carriers of the mitochondrial mutation m.3243A>G presents highly variable phenotypes including mitochondrial encephalomyopaty, lactoacidosis and stroke-like episodes (MELAS). We conducted a follow-up study to evaluate changes in leucocyte heteroplasmy and the clinical phenotypes in m. Read More

    Application of next-generation sequencing to improve cancer management: A review of the clinical effectiveness and cost-effectiveness.
    Clin Genet 2017 Dec 19. Epub 2017 Dec 19.
    Centre for Economic Impacts of Genomic Medicine, Department of Economics, Faculty of Business & Economics, Macquarie University, Australia.
    Uptake of next-generation sequencing (NGS) has increased dramatically due to significant cost reductions and broader community acceptance of NGS. To systematically review the evidence on both the clinical effectiveness and the cost-effectiveness of applying NGS to cancer care. A systematic search for full-length original research articles on the clinical effectiveness and cost-effectiveness of NGS in MEDLINE and EMBASE. Read More

    How practical experiences, educational routes and multidisciplinary teams influence genetic counselors' clinical practice in Europe.
    Clin Genet 2017 Dec 18. Epub 2017 Dec 18.
    Department of Public Health and Caring Science, Uppsala University, Uppsala, Sweden.
    The main objective of our study was to explore whether, and to what extent, genetic counselors' characteristics impact on their tasks in practice. Specifically, we explored the complementariness between genetic counselors and medical geneticists and therefore looked at the most relevant tasks of genetic counselors, according to genetic counselors themselves and according to the medical geneticists they work with. A total of 104 genetic counselors and 29 medical geneticists from 15 countries completed a purposefully designed questionnaire. Read More

    De novo variants in KLF7 are a potential novel cause of developmental delay/intellectual disability, neuromuscular and psychiatric symptoms.
    Clin Genet 2017 Dec 18. Epub 2017 Dec 18.
    Ambry Genetics, Aliso Viejo, California.
    Due to small numbers of reported patients with pathogenic variants in single genes, the phenotypic spectrum associated with genes causing neurodevelopmental disorders such as intellectual disability (ID) and autism spectrum disorder is expanding. Among these genes is KLF7 (Krüppel-like factor 7), which is located at 2q33.3 and has been implicated in several developmental processes. Read More

    A de novo loss-of-function DYNC1H1 mutation in a patient with parkinsonian features and a favourable response to levodopa.
    Clin Genet 2017 Dec 15. Epub 2017 Dec 15.
    Department of Medical Genetics, Medical University of Warsaw, Warsaw, Poland.
    Graphical summary of 'A de novo loss-of-function DYNC1H1 mutation in a patient with parkinsonian features and a favourable response to levodopa' by Szczałuba et al.. Read More


    Okur-Chung neurodevelopmental syndrome: Eight additional cases with implications on phenotype and genotype expansion.
    Clin Genet 2017 Dec 14. Epub 2017 Dec 14.
    Department of Paediatrics and Adolescent Medicine, Queen Mary Hospital, University of Hong Kong, Hong Kong, Hong Kong.
    Okur-Chung syndrome is a neurodevelopmental condition attributed to germline CSNK2A1 pathogenic missense variants. We present 8 unreported subjects with the above syndrome, who have recognizable dysmorphism, varying degrees of developmental delay and multisystem involvement. Together with 6 previously reported cases, we present a case series of 7 female and 7 male subjects, highlighting the recognizable facial features of the syndrome (microcephaly, hypertelorism, epicanthic fold, ptosis, arched eyebrows, low set ears, ear fold abnormality, broad nasal bridge and round face) as well as frequently occurring clinical features including neurodevelopmental delay (93%), gastrointestinal (57%), musculoskeletal (57%) and immunological (43%) abnormalities. Read More

    Causal somatic mutations in urine DNA from persons with the CLOVES subgroup of the PIK3CA-related overgrowth spectrum.
    Clin Genet 2017 Dec 12. Epub 2017 Dec 12.
    Department of Orthopaedic Surgery, Orthopaedic Research Laboratories, Boston Children's Hospital, Boston, Massachusetts.
    Congenital lipomatous overgrowth with vascular, epidermal, and skeletal (CLOVES) anomalies and Klippel-Trenaunay (KTS) syndromes are caused by somatic gain-of-function mutations in PIK3CA, encoding a catalytic subunit of phosphoinositide 3-kinase. Affected tissue is needed to find mutations, as mutant alleles are not detectable in blood. Because some patients with CLOVES develop Wilms tumor, we tested urine as a source of DNA for mutation detection. Read More

    Phenotype expansion and development in Kosaki Overgrowth Syndrome.
    Clin Genet 2017 Dec 11. Epub 2017 Dec 11.
    Department of Medical Genetics, The Children's Memorial Health Institute, Warsaw, Poland.
    We expand the KOGS phenotype by over 70% to include 24 unreported KOGS symptoms, in a first male patient, the third overall associated with the PDGFRB c.1751C>G, p.(Pro584Arg) mutation. Read More

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