Analysis of clinical features and genetic variants in an infant with Bloom syndrome.
10.3760/cma.j.issn.1003-9406.2020.07.015
- Author:
Yanchun SHAN
1
;
Zhaochuan YANG
;
Xiaoyan YANG
;
Ke LEI
;
Peng FU
;
Mingji YI
;
Liang MA
;
Ni RAN
Author Information
1. Department of Child Healthcare, the Affiliated Hospital of Qingdao University, Qingdao, Shandong 266003, China. ranni2003@126.com.
- Publication Type:Journal Article
- From:
Chinese Journal of Medical Genetics
2020;37(7):764-766
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVE:To analyze the clinical features and genetic variants in a 13-month-old child with Bloom syndrome.
METHODS:Clinical data of the child was collected. Genetic variants were detected by high-throughput sequencing and Sanger sequencing.
RESULTS:The child was born at full term but was small for gestational age. His clinical features included loss of appetite, severe growth retardation, microcephaly, and small mandible. Genetic testing found that he had carried compound heterozygous c.1068+3A>C and c.1069-1G>C variants of the BLM gene, both of which were unreported previously.
CONCLUSION:Bloom syndrome is mainly characterized by severe growth retardation in infancy. The novel variants have expanded the variant spectrum of the BLM gene.
