Liu Ning, Bai Ying, Feng Yin, Kong Xiangdong
Department of Obstetrics and Gynecology, Genetic and Prenatal Diagnosis Center, the First Affiliated Hospital of Zhengzhou University, Zhengzhou, Henan 450052, China.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2019 Oct 10;36(10):993-995. doi: 10.3760/cma.j.issn.1003-9406.2019.10.010.
To explore the genetic etiology of a pedigree affected with tricho-rhino-phalangeal syndrome.
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.
A heterozygous frameshift variation c.1995dupA (p.Gly666Argfs*20) of the TRPS1 gene was detected in the proband but not in her parents.
The novel c.1995dupA (p.Gly666Argfs*20) mutation of the TRPS1 gene probably underlies the disease in the proband.
探究一个患有毛发 - 鼻 - 指（趾）综合征家系的遗传病因。
对先证者采用针对遗传性骨病的基因panel进行二代测序（NGS）。通过桑格测序在先证者及其父母中验证疑似突变。
在先证者中检测到TRPS1基因的杂合移码变异c.1995dupA（p.Gly666Argfs*20），但其父母中未检测到。
TRPS1基因的新型c.1995dupA（p.Gly666Argfs*20）突变可能是先证者患病的病因。
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