Mental retardation autosomal dominant 35 caused by de novo missense variants in PPP2R5D gene: a case report and literature review
10.3760/cma.j.cn113694-20220228-00141
- VernacularTitle:PPP2R5D基因变异所致常染色体显性遗传性智力障碍35型1例并文献复习
- Author:
Linlin LIU
1
;
Lingyun GUO
;
Chanjuan HAO
;
Jiuwei LI
;
Gang LIU
Author Information
1. 国家儿童医学中心 首都医科大学附属北京儿童医院感染内科，北京 100045
- Keywords:
PPP2R5D gene;
Mental retardation autosomal dominant 35;
Macrocephaly
- From:
Chinese Journal of Neurology
2022;55(11):1286-1291
- CountryChina
- Language:Chinese
-
Abstract:
Objective:To enhance understanding of mental retardation autosomal dominant 35 (MRD35) by analyzing the clinical and genetic characteristics of the disease.Methods:Clinical and genetic data of 1 case of MRD35 in Beijing Children′s Hospital in July 2018 were reported, and literature review was conducted.Results:The male proband, 1 year and 3 months old, was admitted with the clinical manifestations including mental retardation, low-grade fever, a large forehead, flat nose, open mouth, and hypomyotonia. The brain magnetic resonance imaging showed enlarged lateral ventricles, cavum septum, cavum verge and cavum velum interpositum cyst. The whole exome sequencing test showed that the proband carried a missense mutation c.1258 G>A, (p.E420K) in the PPP2R5D gene, and the mutation was de novo confirmed by Sanger sequencing. There were ten literatures reported, including a total number of 31 cases. Counting on this case, totally 32 cases were included. Among the 32 patients, 32 cases (100.0%) had mental retardation, 26 cases (81.3%) with motor retardation, 26 cases (81.3%) with macrocephaly, 8 cases (25.0%) with epilepsy. Facial dysmorphic features, ocular abnormalities, skeletal abnormalities, and cardiac malformations were also reported. All reported individuals had missense mutations of PPP2R5D gene and were autosomal dominantly inherited. Conclusions:The main clinical manifestations of MRD35 include growth retardation/mental retardation, severe speech impairment, macrocephaly, hypomyotonia, seizures and dysmorphic facial features. A novel missense mutation in the PPP2R5D gene is the cause of MRD35.
