A large family of Nascimento form of syndromic X-linked intellectual developmental disorder caused by large segment deletion of the UBE2A gene: a case report and literature review.
10.7499/j.issn.1008-8830.2412177
- Author:
Dan XU
1
;
Jia-Yang XIE
1
;
Xiao-Li ZHANG
1
;
Meng-Yue WANG
1
;
Man-Man CHU
1
;
Rui HAN
1
;
Jun-Ling WANG
1
;
Xiao-Li LI
1
;
Tian-Ming JIA
1
Author Information
1. Department of Pediatric Internal Medicine, Third Affiliated Hospital of Zhengzhou University, Zhengzhou 450000, China.
- Publication Type:English Abstract
- Keywords:
Family;
Literature review;
Nascimento form of syndromic X-linked intellectual developmental disorder;
UBE2A gene
- MeSH:
Humans;
Male;
Ubiquitin-Conjugating Enzymes/genetics*;
Female;
X-Linked Intellectual Disability/genetics*;
Gene Deletion;
Child;
Pedigree;
Child, Preschool;
Adult
- From:
Chinese Journal of Contemporary Pediatrics
2025;27(7):859-863
- CountryChina
- Language:Chinese
-
Abstract:
This article reports the clinical features and gene mutation types of a large family with Nascimento form of syndromic X-linked intellectual developmental disorder (MRXSN), involving 9 individuals across 3 generations, and a literature review was conducted. In this family, 9 individuals had similar manifestations including mental retardation and unusual facies, and 4 of them had passed away. Genetic testing showed that the proband had the deletion of exons 2-3 of the UBE2A gene, which was inherited from the mother. Fluorescent quantitative polymerase chain reaction showed that the proband and his uncle had the deletion of exons 2-3 of the UBE2A gene; the proband's mother, grandmother, and great-aunt had a heterozygous deletion of exons 2-3 of the UBE2A gene; the proband's father, sister, and aunt had a normal copy number of exons 2-3 of the UBE2A gene. The 34 patients reported in the literature had diverse clinical phenotypes, and UBE2A gene mutations (22/34, 65%) and large fragment deletions (12/34, 35%) were the main mutation types. Moderate to severe mental retardation (34/34, 100%), speech and language impairment (33/34, 97%), and unusual facies (32/34, 94%) were the main clinical manifestations of MRXSN patients. The disease has obvious phenotypic heterogeneity, and early diagnosis facilitates optimal prenatal and postnatal management to improve reproductive outcomes.
