Biallelic variants in LINGO1 are associated with autosomal recessive intellectual disability, microcephaly, speech and motor delay
نویسندگان
چکیده
منابع مشابه
Mutations in the histamine N-methyltransferase gene, HNMT, are associated with nonsyndromic autosomal recessive intellectual disability.
Histamine (HA) acts as a neurotransmitter in the brain, which participates in the regulation of many biological processes including inflammation, gastric acid secretion and neuromodulation. The enzyme histamine N-methyltransferase (HNMT) inactivates HA by transferring a methyl group from S-adenosyl-l-methionine to HA, and is the only well-known pathway for termination of neurotransmission actio...
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Using whole-exome sequencing, we identified seven unrelated individuals with global developmental delay, hypotonia, dysmorphic facial features, and an increased frequency of short stature, ataxia, and autism with de novo heterozygous frameshift, nonsense, splice, and missense variants in the Early B-cell Transcription Factor Family Member 3 (EBF3) gene. EBF3 is a member of the collier/olfactory...
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We report on Dutch and Iranian families with affected individuals who present with moderate to severe intellectual disability and additional phenotypes including progressive tremor, speech impairment, and behavioral problems in certain individuals. A combination of exome sequencing and homozygosity mapping revealed homozygous mutations c.484G>A (p.Gly162Arg) and c.1898C>G (p.Pro633Arg) in SLC6A...
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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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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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ژورنال
عنوان ژورنال: Genetics in Medicine
سال: 2017
ISSN: 1098-3600,1530-0366
DOI: 10.1038/gim.2017.113