| Summary: | Lan Wei, Ling Hou, Yan-Qin Ying, Xiao-Ping Luo Department of Pediatrics, Tongji Hospital, Tongji Medical College, Huazhong University of Science & Technology, Wuhan, Hubei, 430030, People’s Republic of ChinaCorrespondence: Yan-Qin YingDepartment of Pediatrics, Tongji Hospital, Tongji Medical College, Huazhong University of Science & Technology, Jiefang Avenue 1095#, Wuhan, Hubei, 430030, People’s Republic of ChinaTel/Fax +86 27 83662684Email yingyanqin@126.comBackground: Perrault syndrome (PRLTS) is a rare autosomal recessive disorder characterized by sensorineural hearing loss in both sexes and ovarian dysfunction in females. In some cases, patients present with a diversity of neurological signs. Six genes are known to cause Perrault syndrome.Case Report: We report an 11-year-old Chinese girl with delayed gonadal development, sensorineural hearing loss, and neurologic manifestations. Genetic etiology was identified by whole-exome sequencing and confirmed via Sanger sequencing. Compound heterozygous variants with one novel variant c.1752C>A (p.D584E) and one known pathogenic variant c.1172G>A (p.R391H) in TWNK were discovered in the child and inherited from her parents, respectively.Conclusion: The compound heterozygous variants c.1172G>A (p.R391H) and c.1752C>A (p.D584E) of the TWNK gene probably underlie PRLTS type 5 (PRLTS5). This study expands the mutation spectrum of TWNK pathogenicity in the PRLTS5 phenotype.Keywords: Perrault syndrome, TWNK gene, Chinese, whole-exome sequencing
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