Mental Retardation, Autosomal Dominant 5

Last update 01 Nov 2024

Basic Info

Synonyms

INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 5, MENTAL RETARDATION, AUTOSOMAL DOMINANT 5, MRD5

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Introduction

An autosomal dominant condition caused by mutation(s) in the SYNGAP1 gene, encoding Ras/Rap GTPase-activating protein SynGAP. It is characterized by intellectual disability, with most patients developing generalized epilepsy, with some having autism spectrum disorder.

100 Clinical Results associated with Mental Retardation, Autosomal Dominant 5

100 Translational Medicine associated with Mental Retardation, Autosomal Dominant 5

0 Patents (Medical) associated with Mental Retardation, Autosomal Dominant 5

Literatures (Medical) associated with Mental Retardation, Autosomal Dominant 5

01 Sep 2023·Stem Cell Research

Generation of a transgene-free iPS cell line (SDQLCHi053-A) from a young girl carrying a heterozygous mutation (c.427C > T) in SYNGAP1 gene

Article

Author: Gai, Zhongtao ; Liu, Yong ; Liu, Ning ; Wang, Yanxin ; Yang, Xiaomeng ; Liu, Yi ; Lv, Yuqiang ; Zhang, Haiyan

The pathogenic mutations of Synaptic Ras GTPase-activating protein 1 (SYNGAP1) gene (OMIM #603384) have been tightly associated with a neurodevelopmental disease, also called autosomal dominant mental retardation type 5 (MRD5, OMIM #612621). We generated a human iPS cell line from a 34-month-old young girl bearing a recurrent heterozygous mutation (c.427C > T) of SYNGAP1. This cell line has great performance in pluripotency and shows differentiation potential towards three germ layers in vitro.

15 May 2023·Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics

[Autosomal dominant mental retardation type 5 caused by SYNGAP1 gene mutations: a report of 8 cases and literature review].

Review

Author: Tian, Ya-Nan ; Chen, Chen ; Peng, Jing ; Wang, Xiao-Le

OBJECTIVESTo summarize the clinical phenotype and genetic characteristics of children with autosomal dominant mental retardation type 5 caused by SYNGAP1 gene mutations.METHODSA retrospective analysis was performed on the medical data of 8 children with autosomal dominant mental retardation type 5 caused by SYNGAP1 gene mutations who were diagnosed and treated in the Department of Pediatrics, Xiangya Hospital of Central South University.RESULTSThe mean age of onset was 9 months for the 8 children. All children had moderate-to-severe developmental delay (especially delayed language development), among whom 7 children also had seizures. Among these 8 children, 7 had novel heterozygous mutations (3 with frameshift mutations, 2 with nonsense mutations, and 2 with missense mutations) and 1 had 6p21.3 microdeletion. According to the literature review, there were 48 Chinese children with mental retardation caused by SYNGAP1 gene mutations (including the children in this study), among whom 40 had seizures, and the mean age of onset of seizures was 31.4 months. Frameshift mutations (15/48, 31%) and nonsense mutations (19/48, 40%) were relatively common in these children. In terms of treatment, among the 33 children with a history of epileptic medication, 28 (28/33, 85%) showed response to valproic acid antiepileptic treatment and 16 (16/33, 48%) achieved complete seizure control after valproic acid monotherapy or combined therapy.CONCLUSIONSChildren with autosomal dominant mental retardation type 5 caused by SYNGAP1 gene mutations tend to have an early age of onset, and most of them are accompanied by seizures. These children mainly have frameshift and nonsense mutations. Valproic acid is effective for the treatment of seizures in most children.

01 Oct 2022·Stem Cell Research

Generation of an induced pluripotent stem cell line (SDQLCHi044-A) from a patient with autosomal dominant mental retardation type 5 harboring heterozygous mutation in SYNGAP1 gene

Article

Author: Yang, Xiaomeng ; Liu, Yi ; Gao, Zaifen ; Li, Yue ; Lv, Yuqiang ; Wang, Yanxin ; Gai, Zhongtao ; Li, Zilong

Autosomal dominant mental retardation type 5 (MRD5) is a rare neurodevelopmental disorder caused by mutations in the SYNGAP1 gene. Here, we established an induced pluripotent stem cell (iPSC) line from peripheral blood mononuclear cells (PBMCs) of a 30-month-old boy carrying a heterozygous mutation (c.2059C > T) in the SYNGAP1 gene. The iPSCs exhibited a normal karyotype, expressed pluripotency markers, and displayed differentiation potential in vitro.

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Mental Retardation, Autosomal Dominant 5

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