[Analysis of TWNK variant in a family affected with Perrault syndrome].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 37(7): 739-742, 2020 Jul 10.
Article
em Zh
| MEDLINE
| ID: mdl-32619254
ABSTRACT
OBJECTIVE:
To explore the genetic etiology of two patients with Perrault syndrome (PRLTS) in a family.METHODS:
Whole exome sequencing (WES) was carried out to screen potential variants within genomic DNA extracted from the proband. Suspected variants were validated by clinical data and results of Sanger sequencing.RESULTS:
WES has identified two heterozygous variants of TWNK gene, namely c.1172G>A (p.Arg391His) and c.1844G>C (p.Gly615Ala). Sanger sequencing confirmed that the c.1172G>A (p.Arg391His), a known pathogenic variant, was derived from her father, while the c.1844G>C (p.Gly615Ala), a novel variant, was derived from her mother. Her brother, who was similarly affected, has carried the same compound heterozygous variants.CONCLUSION:
The compound heterozygous variants c.1172G>A (p.Arg391His) and c.1844G>C (p.Gly615Ala) of the TWNK gene probably underlie PRLTS in the sib pair. The above results have facilitated genetic counseling and prenatal diagnosis for the affected family.
Texto completo:
1
Base de dados:
MEDLINE
Assunto principal:
Disgenesia Gonadal 46 XX
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Perda Auditiva Neurossensorial
Tipo de estudo:
Prognostic_studies
Limite:
Female
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Humans
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Male
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Pregnancy
Idioma:
Zh
Ano de publicação:
2020
Tipo de documento:
Article