Fan Lijuan, Li Yang, Luo Huan, Shen Yajun, Yuan Meng, Yang Zuozhen, Gan Jing
Department of Pediatrics, West China Second University Hospital, Sichuan University; Key Laboratory of Obstetric & Gynecologic and Pediatric Diseases and Birth Defects of Ministry of Education, Sichuan University, Chengdu, Sichuan 610041, China.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2022 Apr 10;39(4):397-400. doi: 10.3760/cma.j.cn511374-20210807-00656.
To analyze the clinical and genetic characteristics of a child featuring Xia-Gibbs syndrome.
Whole exome sequencing was carried out for the child.
The patient has presented with developmental delay, hypotonia, strabismus and snoring. Cranial MRI revealed hypomyelination, while the EEGs were normal. Genetic testing revealed a de novo variant of the AHDC1 gene, namely c.730delA (p.Ile244Serfs*16), which was classified as pathogenic (PVS1+PS2+PM2). Together with 60 cases from the literature, individuals harboring a AHDC1 variant commonly have delayed motor milestones, speech delay, facial dysmorphism and hypotonia. Dysgenesis of corpus callosum is also common. In total 47 AHDC1 variants have been reported, among which truncating variants were the most common type.
The c.730delA (p.Ile244Serfs*16) variant of the AHDC1 gene probably underlay the Xia-Gibbs syndrome in this patient. Above finding has provided a basis for the clinical diagnosis.
分析1例患有夏-吉布斯综合征患儿的临床及遗传学特征。
对该患儿进行全外显子组测序。
该患者表现出发育迟缓、肌张力减退、斜视和打鼾。头颅磁共振成像显示髓鞘形成不良，而脑电图正常。基因检测发现AHDC1基因的一个新发变异，即c.730delA（p.Ile244Serfs*16），该变异被分类为致病性变异（PVS1+PS2+PM2）。连同文献报道的60例病例，携带AHDC1变异的个体通常有运动发育迟缓、语言发育迟缓、面部畸形和肌张力减退。胼胝体发育不全也很常见。总共已报道47种AHDC1变异，其中截短变异是最常见的类型。
AHDC1基因的c.730delA（p.Ile244Serfs*16）变异可能是该患者夏-吉布斯综合征的病因。上述发现为临床诊断提供了依据。
