Results 31 to 40 of about 45,554 (278)

A novel UBE2A mutation causes X-linked intellectual disability type Nascimento. [PDF]

Hum Genome Var, 2017
X-linked intellectual disability (ID) type Nascimento (MIM #300860), also known as ubiquitin-conjugating enzyme E2 A (UBE2A) deficiency syndrome, is a congenital malformation syndrome characterized by moderate to severe ID, speech impairment, dysmorphic ...
Tsurusaki Y, Ohashi I, Enomoto Y, Naruto T, Mitsui J, Aida N, Kurosawa K.   +6 more
europepmc   +2 more sources

Case Report: Non-ossifying fibromas with pathologic fractures in a patient with NONO-associated X-linked syndromic intellectual developmental disorder

Frontiers in Genetics, 2023
The NONO gene encodes a nuclear protein involved in transcriptional regulation, RNA synthesis and DNA repair. Hemizygous loss-of function, de novo or maternally inherited variants in NONO have been associated with an X-linked syndromic intellectual ...
Karin Writzl, Karin Writzl, Blaž Mavčič, Blaž Mavčič, Aleš Maver, Aleš Maver, Alenka Hodžić, Borut Peterlin   +7 more
doaj   +1 more source

Expansion of Clinical and Genetic Spectrum of DDX3X Neurodevelopmental Disorder in 23 Chinese Patients

Frontiers in Molecular Neuroscience, 2022
AimDe novo DDX3X variants account for 1–3% of unexplained intellectual disability cases in females and very rarely in males. Yet, the clinical and genetic features of DDX3X neurodevelopmental disorder in the Chinese cohort have not been characterized ...
Yuwei Dai, Yuwei Dai, Zhuanyi Yang, Jialing Guo, Jialing Guo, Haoyu Li, Haoyu Li, Jiaoe Gong, Yuanyuan Xie, Yuanyuan Xie, Bo Xiao, Bo Xiao, Hua Wang, Hua Wang, Lili Long, Lili Long, Lili Long   +16 more
doaj   +1 more source

Seizures and X-linked intellectual disability [PDF]

European Journal of Medical Genetics, 2012
Intellectual disability occurs as an isolated X-linked trait and as a component of recognizable X-linked syndromes in the company of somatic, metabolic, neuromuscular, or behavioral abnormalities. Seizures accompany intellectual disability in almost half of these X-linked disorders. The spectrum of seizures found in the X-linked intellectual disability
Roger E, Stevenson, Kenton R, Holden, R Curtis, Rogers, Charles E, Schwartz   +3 more
openaire   +2 more sources

Exons deletion of CNKSR2 gene identified in X-linked syndromic intellectual disability

BMC Medical Genetics, 2020
Background The Houge type of X-linked syndromic mental retardation is an X-linked intellectual disability (XLID) recently recorded in the Online Mendelian Inheritance in Man (OMIM) and only 8 cases have been reported in literature thus far.
Mei Daoqi, Chen Guohong, Wang Yuan, Yang Zhixiao, Xu Kaili, Mei Shiyue   +5 more
doaj   +1 more source

Prenatal diagnosis of de novo int22h1/int22h2-mediated Xq28 duplication syndrome involving RAB39B following a previous ambiguous genitalia pregnancy

Taiwanese Journal of Obstetrics & Gynecology, 2022
Objective: To report a prenatal diagnosis of int22h1/int22h2-mediated Xq28 duplication syndrome. Case report: Herein, we present the case of a 28-year-old female who had a previous ambiguous genitalia pregnancy without genetic abnormality that was ...
Yung Chen Chien, Jia Shing Chen, Yu Ming Shiao, Ching Hua Hsiao   +3 more
doaj   +1 more source

A novel hemizygous mutation associated with severe intellectual disability and epilepsy: a case report

Journal of International Medical Research, 2021
ARHGEF9 encodes collybistin, a brain-specific guanosine diphosphate-guanosine-5′-triphosphate exchange factor that plays an important role in clustering of gephyrin and γ-aminobutyric acid type A receptors in the postsynaptic membrane.
Tong Qiu, Qian Dai, Qiu Wang
doaj   +1 more source

FRMPD4 mutations cause X-linked intellectual disability and disrupt dendritic spine morphogenesis. [PDF]

Hum Mol Genet, 2018
Piard J, Hu JH, Campeau PM, Rzonca S, Van Esch H, Vincent E, Han M, Rossignol E, Castaneda J, Chelly J, Skinner C, Kalscheuer VM, Wang R, Lemyre E, Kosinska J, Stawinski P, Bal J, Hoffman DA, Schwartz CE, Van Maldergem L, Wang T, Worley PF.   +21 more
europepmc   +2 more sources

Mapping the landscape of tandem repeat variability by targeted long read single molecule sequencing in familial X-linked intellectual disability

BMC Medical Genomics, 2018
Background The etiology of more than half of all patients with X-linked intellectual disability remains elusive, despite array-based comparative genomic hybridization, whole exome or genome sequencing.
Alena Zablotskaya, Hilde Van Esch, Kevin J. Verstrepen, Guy Froyen, Joris R. Vermeesch   +4 more
doaj   +1 more source

A novel UBE2A splice site variant causing intellectual disability type Nascimento

Clinical Case Reports, 2022
X‐linked intellectual disability type Nascimento (XLID) is a rare disease caused by variants in the ubiquitin‐conjugating enzyme E2A gene (UBE2A). Patients with XLID have similar phenotypes, including speech impairments, severe intellectual disability ...
Shuyuan Yan, Yanling Wang, Ying Chen, Hongxia Yuan, Xiaoni Kuang, Da Hou, Xueyi Li, Linglin Pan, Guangwen Huang, Jun He, Tuanmei Wang, Xiangwen Peng   +11 more
doaj   +1 more source