Clinical Genetics
Clinical and genetic analysis of a Chinese pedigree affected with Smith-Lemli-Opitz syndrome
Gao Chao, Duan Jiali, Zhang Pei, Gao Yang, Zhang Yanmin, Wang Yanli, An Shuang, Huang Jiaojiao
Published 2020-11-10
Cite as Chin J Med Genet, 2020, 37(11): 1272-1275. DOI: 10.3760/cma.j.cn511374-20190929-00502
Abstract
ObjectiveTo explore the clinical phenotype and pathogenic variants in a Chinese pedigree affected with Smith-Lemli-Opitz syndrome.
MethodsPeripheral blood samples were collected from five members, including two affected ones, from the pedigree for the extraction of genomic DNA. Whole exome sequencing was carried out, and candidate variants were verified by Sanger sequencing as well as reverse transcription sequencing at the RNA level.
ResultsThe proband and another affected child from the pedigree showed mental retardation, dyskinesia, microcephaly, micrognathia, anteverted nares, and 2/3 toe syndactyly. The proband also had hypospadia, single upper incisor, and lower serum cholesterol level. Both children were found to harbor a paternally derived c. 278C>T (p.T93M) variant and a maternally derived c. 907G>A (p.G303R) variant of theDHCR7 gene. Both were known pathogenic mutations.
ConclusionThe compound heterozygous mutations of c. 278C>T (p.T93M) and c. 907G>A (p.G303R) of theDHCR7 gene probably underlay the disease in this pedigree. Above finding has enabled early diagnosis and treatment of Smith-Lemli-Opitz syndrome.
Key words:
Smith-Lemli-Opitz syndrome; DHCR7 gene; Compound heterozygous mutation; Cholesterol; Congenital malformation
Contributor Information
Gao Chao
Department of Rehabilitation Medicine, Children’ Hospital Affiliated to Zhengzhou University, Henan Children’s Hospital, Zhengzhou Children’s Hospital, Zhengzhou, Henan 450018, China
Duan Jiali
Department of Rehabilitation Medicine, Children’ Hospital Affiliated to Zhengzhou University, Henan Children’s Hospital, Zhengzhou Children’s Hospital, Zhengzhou, Henan 450018, China
Zhang Pei
Department of Pediatrics, the First People’s Hospital of Shangqiu, Shangqiu, Henan 476100, China
Gao Yang
Graduate School of Zhengzhou University, Zhengzhou, Henan 450001, China
Zhang Yanmin
Department of Rehabilitation Medicine, Children’ Hospital Affiliated to Zhengzhou University, Henan Children’s Hospital, Zhengzhou Children’s Hospital, Zhengzhou, Henan 450018, China
Wang Yanli
Department of Rehabilitation Medicine, Children’ Hospital Affiliated to Zhengzhou University, Henan Children’s Hospital, Zhengzhou Children’s Hospital, Zhengzhou, Henan 450018, China
An Shuang
Department of Rehabilitation Medicine, Children’ Hospital Affiliated to Zhengzhou University, Henan Children’s Hospital, Zhengzhou Children’s Hospital, Zhengzhou, Henan 450018, China
Huang Jiaojiao
Department of Rehabilitation Medicine, Children’ Hospital Affiliated to Zhengzhou University, Henan Children’s Hospital, Zhengzhou Children’s Hospital, Zhengzhou, Henan 450018, China
