Journal of Jilin University(Medicine Edition) ›› 2020, Vol. 46 ›› Issue (6): 1288-1292.doi: 10.13481/j.1671-587x.20200628

• Research in clinical medicine • Previous Articles     Next Articles

Clinical and genetic characteristics of a family with Angelman syndrome

Shuhuan CHENG,Meng SUN,Mengmeng LI,Yaying CHENG()   

  1. Department of Pediatrics,General Hospital,Hebei Province,Shijiazhuang 050051,China
  • Received:2020-03-06 Online:2020-11-28 Published:2021-01-27
  • Contact: Yaying CHENG E-mail:doctorcyy@126.com

Abstract: Objective

To summarize the data of a family with Angelman Syndrome(AS) and analyze their clinical and genetic characteristics, and to improve the clinicans’ understanding of AS.

Methods

The history, clinical manifestation results of auxiliary examination and genetic detection of two brothers and their relatives in the family with AS were collected, and the relevant literatures were reviewed.

Results

The patient was a boy,aged 4 monthes and 3 days who presented developmental delay, dyskinesia, feeding difficulties; his second elder brother aged 5 years and 2 months who displayed language disorder, dyskinesia, mental retardation, inappropriate laughter, hyperactive, abnormal behavior, seizures and characteristic electroencephalogram(EEG). The second generation gene sequencing results showed the patient and his second elder brother had a novel maternal nonsense mutation of the UBE3A gene(c.766 C>T). The results of Sanger sequencing showed the mutation derived from their mother.

Conclusion

AS is a rare neurodevelopmental disorder. Its early clinical manifestations are atypical and need to be confirmed by molecular biological techniques.

Key words: Angelman syndrome, ubiquitin-protein ligase e3a, nonsense mutation, multiplex ligation-dependent probe amplification, gene sequencing

CLC Number: 

  • R729