title: A novel mutation of theMITFgene in a family with Waardenburg syndrome type 2: A case report.
abstract: Waardenburg syndrome (WS) is an autosomal dominant disorder with varying degrees of sensorineural hearing loss, and accumulation of pigmentation in hair, skin and iris. There are four types of WS (WS1-4) with differing characteristics. Mutations in six genes [paired box gene 3 (PAX3), microphthalmia-associated transcription factor (MITF), endothelin 3 (END3), endothelin receptor type B (EDNRB), SRY (sex determining region Y)-box 10 (SOX10) and snail homolog 2 (SNAI2)] have been identified to be associated with the various types. This case report describes the investigation of genetic mutations in three patients with WS2 from a single family. Genomic DNA was extracted, and the six WS-related genes were sequenced using next-generation sequencing technology. In addition to mutations in PAX3, EDNRB and SOX10, a novel heterozygousMITFmutation, p.Δ315Arg (c.944_946delGAA) on exon 8 was identified. This is predicted to be a candidate disease-causing mutation that may affect the structure and function of the enzyme.
authors.affiliation: Medical Genetic Laboratory, Department of Obstetrics and Gynecology, Tianjin Medical University General Hospital, Tianjin 300052, P.R. China.
authors.forename: Yunfang
authors.initials: Y
authors.lastname: Shi
authors.affiliation: Medical Genetic Laboratory, Department of Obstetrics and Gynecology, Tianjin Medical University General Hospital, Tianjin 300052, P.R. China.
authors.forename: Xiaozhou
authors.initials: X
authors.lastname: Li
authors.affiliation: Medical Genetic Laboratory, Department of Obstetrics and Gynecology, Tianjin Medical University General Hospital, Tianjin 300052, P.R. China.
authors.forename: Duan
authors.initials: D
authors.lastname: Ju
authors.affiliation: Medical Genetic Laboratory, Department of Obstetrics and Gynecology, Tianjin Medical University General Hospital, Tianjin 300052, P.R. China.
authors.forename: Yan
authors.initials: Y
authors.lastname: Li
authors.affiliation: Medical Genetic Laboratory, Department of Obstetrics and Gynecology, Tianjin Medical University General Hospital, Tianjin 300052, P.R. China.
authors.forename: Xiuling
authors.initials: X
authors.lastname: Zhang
authors.affiliation: Medical Genetic Laboratory, Department of Obstetrics and Gynecology, Tianjin Medical University General Hospital, Tianjin 300052, P.R. China.
authors.forename: Ying
authors.initials: Y
authors.lastname: Zhang
keywords: MITF gene; Waardenburg syndrome; mutation; next-generation sequencing