RSRC1 loss-of-function variants cause mild to moderate autosomal recessive intellectual disability
نویسندگان
چکیده
منابع مشابه
Mutations in SLC6A17 cause autosomal-recessive intellectual disability.
Homozygous SLC6A17-mutations cause autosomalrecessive intellectual disability with progressive tremor, speech impairment, and behavioral problems Iqbal Z et al. (2015) American Journal of Human Genetics 96(3): 386–396 Intellectual disability (ID) is a heterogeneous and debilitating neurodevelopmental disorder which affects up to 3% of the general population. Despite the high prevalence, only up...
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With a prevalence between 1 and 3%, hereditary forms of intellectual disability (ID) are among the most important problems in health care. Particularly, autosomal-recessive forms of the disorder have a very heterogeneous molecular basis, and genes with an increased number of disease-causing mutations are not common. Here, we report on three different mutations (two nonsense mutations, c.679C>T ...
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We examined an extended, consanguineous family with seven individuals with severe intellectual disability and microcephaly. Further symptoms were hearing loss, vision impairment, gastrointestinal disturbances, and slow and asymmetric waves in the EEG. Linkage analysis followed by exome sequencing revealed a homozygous variant in SPATA5 (c.1822_1824del; p.Asp608del), which segregates with the ph...
متن کاملGenetic Causes of Putative Autosomal Recessive Intellectual Disability Cases in Hamedan Province
Objective: The aim of this study was to investigate the genetic causes of autosomal recessive intellectual disabilities (AR-ID) in Hamadan province of Iran. Materials & Methods: In this descriptive-analytical cross-sectional study, 25 families with more than one affected with putative autosomal recessive intellectual disability were chosen with collaboration of Welfare Organization of Hamada...
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We describe the characterization of a gene for mild nonsyndromic autosomal recessive intellectual disability (ID) in two unrelated families, one from Austria, the other from Pakistan. Genome-wide single nucleotide polymorphism microarray analysis enabled us to define a region of homozygosity by descent on chromosome 17q25. Whole-exome sequencing and analysis of this region in an affected indivi...
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ژورنال
عنوان ژورنال: Brain
سال: 2020
ISSN: 0006-8950,1460-2156
DOI: 10.1093/brain/awaa070