Autosomal dominant intellectual developmental disorder 60 with seizures: a case report.
10.7499/j.issn.1008-8830.2408067
- Author:
Ying-Ying SUN
1
;
Hui LIU
1
;
Miao LIU
1
;
Shi-Yue MEI
;
Yan-Li MA
1
Author Information
1. Department of Neurology, Children's Hospital Affiliated to Zhengzhou University, Zhengzhou 450000, China.
- Publication Type:English Abstract
- Keywords:
AP2M1 gene;
Angelman syndrome;
Autosomal dominant intellectual developmental disorder 60 with seizures;
Child
- MeSH:
Humans;
Female;
Seizures/genetics*;
Infant;
Mutation;
Intellectual Disability/genetics*;
Electroencephalography;
Developmental Disabilities/genetics*
- From:
Chinese Journal of Contemporary Pediatrics
2024;26(12):1362-1366
- CountryChina
- Language:Chinese
-
Abstract:
The patient is a 10-month and 21-day-old girl who began to show developmental delays at 3 months of age, with severe language developmental disorders, stereotyped movements, and easily provoked laughter. Physical examination revealed fair skin and a flattened occiput. At 10 months of age, a video electroencephalogram suggested atypical absence seizures, with migrating slow-wave activity observed during the interictal period. Whole exome sequencing of three family members indicated a novel mutation in the AP2M1 gene, c.508C>T (p.R170W), in the patient. A total of six cases of autosomal dominant intellectual developmental disorder 60 with seizures associated with mutations in the AP2M1 gene have been reported both domestically and internationally (including this study). The main clinical features included developmental delays (6 cases), language developmental disorders (5 cases), stereotyped movements (3 cases), a tendency to smile (1 case), and atypical absence seizures (4 cases). Interictal electroencephalograms showed widespread spike waves and spike-slow wave discharges (5 cases), and migrating slow-wave activity (1 case). The c.508C>T (p.R170W) mutation may be a hotspot for mutations in the AP2M1 gene, and its clinical features are similar to those of Angelman syndrome.
