Clinical and genetic investigation of families with type II Waardenburg syndrome

Mol Med Rep. 2016 Mar;13(3):1983-8. doi: 10.3892/mmr.2016.4774. Epub 2016 Jan 13.


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.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Asian People
  • Base Sequence
  • China
  • DNA Mutational Analysis
  • Exons / genetics
  • Family
  • Female
  • Finger Joint / pathology
  • Genetic Association Studies
  • Genetic Testing*
  • Humans
  • Iris / pathology
  • Male
  • Pedigree
  • Pigmentation
  • Polymerase Chain Reaction
  • Waardenburg Syndrome / genetics*
  • Waardenburg Syndrome / pathology*

Supplementary concepts

  • Waardenburg syndrome type 2