Tricho-rhino-phalangeal syndrome due to a novel frameshift variation of the TRPS1 gene.
10.3760/cma.j.issn.1003-9406.2019.10.010
- Author:
Ning LIU
1
;
Ying BAI
;
Yin FENG
;
Xiangdong KONG
Author Information
1. Department of Obstetrics and Gynecology, Genetic and Prenatal Diagnosis Center, the First Affiliated Hospital of Zhengzhou University, Zhengzhou, Henan 450052, China. kongxd@263.net.
- Publication Type:Journal Article
- MeSH:
DNA-Binding Proteins;
genetics;
Female;
Fingers;
abnormalities;
Frameshift Mutation;
Hair Diseases;
genetics;
Humans;
Langer-Giedion Syndrome;
genetics;
Nose;
abnormalities;
Pedigree;
Transcription Factors;
genetics
- From:
Chinese Journal of Medical Genetics
2019;36(10):993-995
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVE:To explore the genetic etiology of a pedigree affected with tricho-rhino-phalangeal syndrome.
METHODS:Next-generation sequencing (NGS) using a gene panel for hereditary osteopathies was carried out for the proband. Suspected mutation was validated in the proband and her parents by Sanger sequencing.
RESULTS:A heterozygous frameshift variation c.1995dupA (p.Gly666Argfs*20) of the TRPS1 gene was detected in the proband but not in her parents.
CONCLUSION:The novel c.1995dupA (p.Gly666Argfs*20) mutation of the TRPS1 gene probably underlies the disease in the proband.
