A neonate with Smith-Lemli-Opitz syndrome caused by DHCR7 gene compound heterozygous variations
10.3760/cma.j.cn113903-20210511-00436
- VernacularTitle:DHCR7基因复合杂合变异致新生儿Smith-Lemli-Opitz综合征1例
- Author:
Ming LING
1
;
Chijuan ZHONG
;
Furong HUANG
;
Jun XU
;
Menghua ZHAO
;
Li HUANG
;
Aimin ZHANG
Author Information
1. 湖南师范大学第一附属医院 湖南省人民医院新生儿科 儿童呼吸病学湖南省重点实验室，长沙 410000
- Keywords:
Smith-Lemli-Opitz syndrome;
Oxidoreductases acting on CH-CH group donors;
Heterozygote;
Genetic variation;
Infant, newborn
- From:
Chinese Journal of Perinatal Medicine
2022;25(2):146-149
- CountryChina
- Language:Chinese
-
Abstract:
This article reported a male neonate with Smith-Lemli-Opitz syndrome (SLOS) caused by DHCR7 gene compound heterozygous variations. The patient presented with multiple malformations and feeding difficulties after birth and was transferred to the First Affiliated Hospital of Hunan Normal University (Hunan Provincial People's Hospital) from a local hospital eight days later. Physical examination found general scleredema, scalp defects, short penis, urinary tract malformation, bilateral syndactyly of the second and third toes, and low serum cholesterol. Whole-exome and Sanger sequencing indicated a compound heterozygous mutation in the DHCR7 gene, c.852C>A(p.F284L), and a de novo mutation of c.820_825del(p.N274_V275del). SLOS is rare in the Asian populations and prone to missed diagnosis and misdiagnosis with difficulty in clinical management. The possibility of SLOS should be considered for newborns with multiple malformations and low serum cholesterol.
