Identification of a novel variant of NHS gene underlying Nance-Horan syndrome.
10.3760/cma.j.cn511374-20200817-00603
- Author:
Xiaowei CHEN
1
;
Peiwen XU
;
Jie LI
;
Yuping NIU
;
Ranran KANG
;
Yuan GAO
Author Information
1. Center for Reproductive Medicine Research, National Research Center for Assisted Reproductive Technology and Reproductive Genetics, Key Laboratory for Reproductive Endocrinology of the Ministry of Education, Shandong University, Jinan, Shandong 250001, China. gaoyuan@sduivf.com.
- Publication Type:Journal Article
- MeSH:
Cataract/genetics*;
Genetic Diseases, X-Linked;
Humans;
Mutation;
Pedigree;
State Medicine;
Tooth Abnormalities
- From:
Chinese Journal of Medical Genetics
2021;38(11):1077-1080
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVE:To explore the genetic basis for a pedigree affected with Nance-Horan syndrome.
METHODS:Clinical manifestation of the patients was analyzed. Genomic DNA was extracted from peripheral blood samples of the pedigree members and 100 unrelated healthy controls. A panel of genes for congenital cataract was subjected to next-generation sequencing (NGS), and candidate variant was verified by Sanger sequencing and bioinformatic analysis based on guidelines of American College of Medical Genetics and Genomics (ACMG). mRNA expression was determined by reverse transcriptase-PCR (RT-PCR). Linkage analysis based on short tandem repeats was carried out to confirm the consanguinity.
RESULTS:A small insertional variant c.766dupC (p.Leu256Profs*21) of the NHS gene was identified in the proband and his affected mother, but not among unaffected members and the 100 healthy controls. The variant was unreported in Human Gene Mutation Database (HGMD) and other databases. Based on the ACMG guideline, the variant is predicted to be pathogenic (PVS1+PM2+PM6+PP4).
CONCLUSION:The novel variant c.766dupC of the NHS gene probably underlay the X-linked dominant Nance-Horan syndrome in this pedigree.
