Analysis of clinical feature and genetic mutation in a Chinese family affected with Seckel syndrome.
10.3760/cma.j.issn.1003-9406.2019.06.016
- Author:
Linliang HONG
1
;
Jing LIU
;
Bin WU
Author Information
1. Department of Pediatrics, the Fist Affiliated Hospital of Fujian Medical University, Fuzhou, Fujian 350005, China. Email: trap2008@163.com.
- Publication Type:Case Reports
- MeSH:
Child;
Dwarfism;
Humans;
Intellectual Disability;
Male;
Microcephaly;
Micrognathism;
Mutation
- From:
Chinese Journal of Medical Genetics
2019;36(6):595-597
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVE:To explore the clinical characteristics and genetic mutation in a family affected with Seckel syndrome.
METHODS:Clinical data of the proband and his family members were collected. Potential mutations were detected by high-throughput sequencing and Sanger sequencing.
RESULTS:The proband, a 7-year-and-3-month-old boy, has featured proportioned dwarfism, microcephaly, "bird head" appearance (narrow and backward forehead, prominent and protruded eyes, beak-shaped nose and microretrognathia), high-arched palate, enamel dysplasia, hypodontia, and mental retardation. His parents and two sisters were all phenotypically normal. The proband was found to harbor compound heterozygous c.1535T>A (p.L512X) and c.3346-5T>C (splicing) mutations of the CEP152 gene, which were respectively inherited from his mother and father.
CONCLUSION:The clinical features and genetic mutation of a case with Seckel syndrome were delineated. The newly discovered mutations have expanded the spectrum of CEP152 gene mutations.
