MED23-associated intellectual disability in a non-consanguineous family
نویسندگان
چکیده
منابع مشابه
A Missense Mutation in the HMNT Gene Responsible for Autosomal Recessive Intellectual Disability in an Iranian Family with Consanguineous Marriage
Background and Aims: One of the neurotransmitters in the brain is Histamine which acts as several biological mechanism regulators like inflammation, gastric acid secretion, and neuromodulation. Inactivation of Histamine occurs by histamine N-methyltransferase (HNMT) enzyme. The HNMT transfers a methyl group from S-adenosyl-L-methionine to Histamine and is the main process for the termination of...
متن کاملIdentifying genes responsible for intellectual disability in consanguineous families.
Consanguinity is an important determinant of birth defects including intellectual disability (ID). Consanguineous populations have a relative high prevalence of autosomal recessive forms of intellectual disability (ARID), which constitute a highly heterogeneous group of disorders both in their clinical presentation and in their genetic aetiology. The availability of large cohorts of consanguine...
متن کاملIdentification of novel locus at chromosome 3p12.3-q13.31 for autosomal recessive intellectual disability in a consanguineous family.
To the Editor : Intellectual disability (ID) is a common disability affecting 1–3% of the general population. ID is defined as having an IQ less than 70. ID can be divided into syndromic forms (SID) and non-syndromic forms (NSID). Whereas SID is characterized by malformations, dysmorphic features or neurological abnormalities, NSID is characterized by the presence of ID without any additional f...
متن کاملAn Amino Acid Deletion in SZT2 in a Family with Non-Syndromic Intellectual Disability
Autosomal recessive intellectual disability (ID) is characterized by extensive genetic heterogeneity. Recently, three mutations in SZT2 were reported in two unrelated children with unexplained infantile epileptic encephalopathy with severe ID. Here we report a European American family with three children having non-syndromic mild or moderate ID without seizures. Whole-exome sequencing of three ...
متن کاملNon-intellectual Factors in Learning Disability
100 cases of learning disability are investigated to study non-intellectual factors associated with it. The study reveals that urban area, middle class, unitary and small family show high incidence. Impaired relationship with the parents is the most significant factor, followed by adverse influences in school. The findings are discussed.
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
ژورنال
عنوان ژورنال: American Journal of Medical Genetics Part A
سال: 2015
ISSN: 1552-4825
DOI: 10.1002/ajmg.a.37047