Neurodevelopmental disorder caused by a new mutation of the POLR2A gene: a case report and literature review
10.3760/cma.j.cn101070-20240810-00504
- VernacularTitle:POLR2A基因新发突变致神经发育障碍1例并文献复习
- Author:
Weize LIN
1
;
Jingli XU
;
Caimei LIN
;
Qianying FAN
Author Information
1. 复旦大学附属儿科医院厦门医院康复病房，厦门 361006
- Publication Type:Journal Article
- Keywords:
POLR2A gene;
Neurodevelopmental disorder;
Whole exome sequencing;
Child
- From:
Chinese Journal of Applied Clinical Pediatrics
2025;40(2):138-141
- CountryChina
- Language:Chinese
-
Abstract:
The clinical data of a child with neurodevelopmental disorders caused by a new mutation in the POLR2A gene were retrospectively analyzed.The patient was a 4-year and 2-month-old girl who presented at Xiamen Hospital, Children′s Hospital of Fudan University in June 2024 with clinical manifestations of early infantile hypotonia, muscle atrophy of both lower limbs, global developmental delay (including delays in motor and language development, mental retardation, etc.), sleep difficulties, feeding difficulties, autistic behaviors (namely, social withdrawal), epilepsy, and auditory deficits.The child had one seizure at the age of 2 years and 8 months and one at the age of 4 years, but seizures are currently controlled by drugs.Cranial magnetic resonance imaging and CT showed agenesis of the corpus callosum, bilateral ventricular widening and cerebellar hypoplasia.Whole exome sequencing showed a new mutation c. 3364C>T (p.P1122S) in the POLR2A gene (NM_000937) in the child, and no related gene variants were found in either parental lineage.According to the American College of Medical Genetics and Genomics rating guidelines, it was determined to be a suspected pathogenic variant (PS2+ PM2+ PP3+ PP4).The mutation site has not been reported at home and abroad.The c. 3364C > T ( p. P1122S ) mutation of the POLR2A gene can cause neurodevelopmental disorders, severe phenotypes and poor long-term prognosis.
