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BackgroundGlobal developmental delay intellectual disability GDD ID used to be named as mental retardation MR is one of the most common phenotypes in neurogenetic diseases In this study we described the diagnostic courses clinical and genetic characteristics and prenatal diagnosis of a cohort with patients presented GDD ID with monogenic causes from the perspective of a tertiary genetic counseling and prenatal diagnostic center MethodWe retrospectively analyzed the diagnostic courses clinical characteristics and genetic spectrum of patients presented GDD ID with rare monogenic causes We also conducted a follow-up study on prenatal diagnosis in these families Pathogenicity of variants was interpreted by molecular geneticists and clinicians according to the guidelines of the American College of Medical Genetics and Genomics ACMG ResultsAmong 81 patients with GDD ID caused by rare monogenic variants it often took 0 5 4 5 years and 2 8 referrals to obtain genetic diagnoses Devlopmental delay typically occurred before 3 years of age and patients usually presented severe to profound GDD ID The most common co-existing conditions were epilepsy 58 microcephaly 21 and facial anomalies 17 In total 111 pathogenic variants were found in 62 different genes among the 81 pedigrees and 56 variants were novel The most common inheritance patterns in this outbred Chinese population were autosomal dominant AD 47 following autosomal recessive AR 37 and X-linked XL 16 SCN2A SHANK3 and STXBP1 were important causal genes Hot-spot variants were rarely found By the follow-up 33 affected families including 15 13 and 5 families inherited in AR AD and XL modes respectively had undergone prenatal diagnosis And the recurrence rates are 26 7 15 4 and 20 for families inherited in AR AD and XL patterns ConclusionPatients presented with GDD ID caused by rare single gene variants are characterized by early onset relatively severe symptoms and great clinical variability and genetic heterogeneity Timely referrals to genetic counseling and prenatal diagnostic laboratories are important for affected families planning to have additional children

Publication search with Global developmental delay and intellectual disability (GDD/ID) as keyword

Clinical and genetic characteristics and prenatal diagnosis of patients presented GDD/ID with rare monogenic causes

Publication search
with Global developmental delay and intellectual disability (GDD/ID) as keyword