Genetics of autosomal recessive intellectual disability
نویسندگان
چکیده
منابع مشابه
Genetic 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...
متن کاملMutations 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...
متن کاملNDST1 missense mutations in autosomal recessive intellectual disability.
NDST1 was recently proposed as a candidate gene for autosomal recessive intellectual disability in two families. It encodes a bifunctional GlcNAc N-deacetylase/N-sulfotransferase with important functions in heparan sulfate biosynthesis. In mice, Ndst1 is crucial for embryonic development and homozygous null mutations are perinatally lethal. We now report on two additional unrelated families wit...
متن کاملMutations in NSUN2 cause autosomal-recessive intellectual disability.
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 ...
متن کاملMutation in Aminoacyl Trna Synthetase 1 In Autosomal Recessive Intellectual Disability
Background: Intellectual disability (ID) is one of the most common neurodevelopment disorders that caused by both environment and genetic factors. Also genetic defects have involving for approximately 50% of ID etiology, it is demonstrated that genetics play significant role in ID development. The important risk factor in most country in ID is consanguinity marriage. Iran has high frequency of ...
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ژورنال
عنوان ژورنال: medizinische genetik
سال: 2018
ISSN: 0936-5931,1863-5490
DOI: 10.1007/s11825-018-0209-z