A case report of neurodevelopmental disorder caused by mutation of the RAB11B gene
10.3760/cma.j.cn113694-20240812-00546
- VernacularTitle:RAB11B基因突变致神经发育障碍1例
- Author:
Xi ZHANG
1
;
Xiubo DU
1
;
Zhiru WANG
1
;
Huawei LI
1
;
Weili DANG
1
;
Yuxiang YE
1
;
Rongyi ZHOU
1
Author Information
1. 河南中医药大学第一附属医院儿科医院 河南中医药大学儿科医学院，郑州 450000
- Publication Type:Journal Article
- Keywords:
Developmental disabilities;
Language development disorders;
Gait disorders, neurologic;
Mutation;
RAB11B gene
- From:
Chinese Journal of Neurology
2025;58(2):184-187
- CountryChina
- Language:Chinese
-
Abstract:
The purpose of this investigation was to elucidate the clinical characteristics and genetic underpinnings of a pediatric patient with neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter (NDAGSW, OMIM#617807). The affected individual, a 1-year-9-month-old male, displayed physical development retardation and distinctive facial features, notably periorbital puffiness, upward-gazing palpebral fissures, a shortened philtrum, a tented mouth, and conical-shaped digits. Clinically, the patient presented with profound global developmental retardation, marked language deficits, hypotonia, and an ataxic gait. Subtle, non-diagnostic alterations were identified in cranial magnetic resonance imaging and visual evoked potential assessments. The trio-whole exome sequencing analysis revealed a de novo heterozygous mutation, c.202G>A (p.A68T), within the RAB11B gene, a known pathogenic variant linked to NDAGSW. Neurodevelopmental disorders due to RAB11B gene variants are rare disorders with clinical manifestations of severe mental retardation, aphasia, motor retardation, gait abnormalities with peculiar phenotypical features, structural abnormalities of the brain, and reduced cerebral white matter, cerebellar hypoplasia, and hypoplasia of the corpus callosum as seen on cranial imaging. Based on the characteristics of the disease, the heterozygous missense mutation c.202G>A (p.Ala68Thr) in the RAB11B gene was identified as the genetic etiology of the child.
