Clinical phenotype and genetic analysis of a Chinese pedigree affected with familial progressive hyperpigmentation and hypopigmentation.
10.3760/cma.j.cn511374-20211123-00932
- Author:
Zhongwei XU
1
;
Zhe SU
;
Rongfei ZHENG
;
Liping HOU
;
Longjiang ZHANG
Author Information
1. Department of Endocrinology, Shenzhen Children's Hospital, Shenzhen, Guangdong 518038, China. Su_zhe@126.com.
- Publication Type:Journal Article
- MeSH:
Male;
Humans;
Pedigree;
Hypopigmentation/genetics*;
Phenotype;
Hyperpigmentation/genetics*;
China
- From:
Chinese Journal of Medical Genetics
2022;39(12):1360-1365
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVE:To explore the clinical phenotype and genetic basis for a Chinese pedigree affected with familial progressive hyperpigmentation and hypopigmentation (FPHH).
METHODS:Clinical data and family history for a child with FPHH were collected. Peripheral blood samples were collected from the child, his parents and two sisters. Following the extraction of DNA, high-throughput sequencing was carried out to screen for genetic variant associated with the disease. Candidate variant was verified by Sanger sequencing of his family members.
RESULTS:The main clinical features of the proband have included progressive hyperpigmentation and hypopigmentation. High-throughput sequencing revealed that he has harbored a heterozygous c.105T>A (p.Asn35Lys) variant of the KITLG gene, which was unreported previously. Sanger sequencing confirmed that the variant has co-segregated with the disease phenotype in his pedigree.
CONCLUSION:For infants with progressive skin pigmentation and hypopigmentation spots, FPHH should be suspected. The heterozygous c.105T>A (p.Asn35Lys) variant of the KITLG gene probably underlay the FPHH in this pedigree.
