医学
外显子组测序
智力残疾
脊柱书写障碍
GNAS复合轨迹
儿科
生物信息学
基因
遗传学
脊柱裂
生物
突变
精神科
作者
Nenad Koruga,Silvija Pušeljić,Marko Babić,Mario Ćuk,Andrea Cvitković Roić,Vjenceslav Vrtarić,Anamarija Soldo Koruga,Alen Rončević,Višnja Tomac,Tatjana Rotim,Tajana Turk,Domagoj Kretić,Nora Pušeljić,Rebeka Nađ,Ivana Serdarušić
出处
期刊:Children (Basel)
[Multidisciplinary Digital Publishing Institute]
日期:2023-03-26
卷期号:10 (4): 623-623
被引量:6
标识
DOI:10.3390/children10040623
摘要
Gabriele-de Vries syndrome is a rare autosomal dominant genetic disease caused by de novo pathogenic variants in the Yin Yang 1 (YY1) gene. Individuals with this syndrome present with multiple congenital anomalies, as well as a delay in development and intellectual disability. Herein, we report the case of a newborn male patient with a novel de novo pathogenic variant in the Guanine Nucleotide-Binding Protein, Alpha Stimulating (GNAS) gene, which was identified by whole-exome sequencing. Our patient suffered from a large open spinal dysraphism which was treated surgically immediately after birth. During the follow-up, facial dysmorphism, bladder and bowel incontinence, and mildly delayed motor and speech development were observed. Congenital central nervous system disorders were also confirmed radiologically. In this case report, we present our diagnostic and treatment approaches to this patient. To our knowledge, this is the first reported case of Gabriele-de Vries syndrome presenting with spinal dysraphism. Extensive genetic evaluation is the cornerstone in treatment of patients with suspected Gabriele-de Vries syndrome. However, in cases with potentially life-threatening conditions, surgery should be strongly considered.
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