title: Clinical and genetic investigation of families with type II Waardenburg syndrome.
abstract: The present study aimed to investigate the molecular pathology of Waardenburg syndrome type II in three families, in order to provide genetic diagnosis and hereditary counseling for family members. Relevant clinical examinations were conducted on the probands of the three pedigrees. Peripheral blood samples of the probands and related family members were collected and genomic DNA was extracted. The coding sequences of paired box 3 (PAX3), microphthalmia‑associated transcription factor (MITF), sex‑determining region Y‑box 10 (SOX10) and snail family zinc finger 2 (SNAI2) were analyzed by polymerase chain reaction and DNA sequencing. The heterozygous mutation, c.649_651delAGA in exon 7 of the MITF gene was detected in the proband and all patients of pedigree 1; however, no pathological mutation of the relevant genes (MITF, SNAI2, SOX10 or PAX3) was detected in pedigrees 2 and 3. The heterozygous mutation c.649_651delAGA in exon 7 of the MITF gene is therefore considered the disease‑causing mutation in pedigree 1. However, there are novel disease‑causing genes in Waardenburg syndrome type II, which require further research.
authors.affiliation: Key Laboratory of Genetics and Birth Health of Hunan, The Family Planning Institute of Hunan, Changsha, Hunan 410126, P.R. China.
authors.forename: Yong
authors.initials: Y
authors.lastname: Chen
authors.affiliation: Department of Otolaryngology, Meizhou People's Hospital, Meizhou, Guangdong 514031, P.R. China.
authors.forename: Fuwei
authors.initials: F
authors.lastname: Yang
authors.affiliation: Key Laboratory of Genetics and Birth Health of Hunan, The Family Planning Institute of Hunan, Changsha, Hunan 410126, P.R. China.
authors.forename: Hexin
authors.initials: H
authors.lastname: Zheng
authors.affiliation: Department of Burns and Plastic Surgery, Third Xiangya Hospital, Central South University, Changsha, Hunan 410013, P.R. China.
authors.forename: Jianda
authors.initials: J
authors.lastname: Zhou
authors.affiliation: Department of Otolaryngology, The Second Xiangya Hospital of Central South University, Changsha, Hunan 410011, P.R. China.
authors.forename: Ganghua
authors.initials: G
authors.lastname: Zhu
authors.affiliation: Department of Otolaryngology, The Second Xiangya Hospital of Central South University, Changsha, Hunan 410011, P.R. China.
authors.forename: Peng
authors.initials: P
authors.lastname: Hu
authors.affiliation: Department of Otolaryngology, The Second Xiangya Hospital of Central South University, Changsha, Hunan 410011, P.R. China.
authors.forename: Weijing
authors.initials: W
authors.lastname: Wu
mesh_terms: D044466:Asian People; D001483:Base Sequence; D002681:China; D004252:DNA Mutational Analysis; D005091:Exons / Q000235:genetics; D005190:Family; D005260:Female; D005384:Finger Joint / Q000473:pathology; D056726:Genetic Association Studies; D005820:Genetic Testing; D006801:Humans; D007498:Iris / Q000473:pathology; D008297:Male; D010375:Pedigree; D010858:Pigmentation; D016133:Polymerase Chain Reaction; D014849:Waardenburg Syndrome / Q000235:genetics* / Q000473:pathology*