Analysis of KIT mutations in five patients from two Han Chinese pedigrees affected with Piebaldism / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To screen for KIT gene mutations in two Han Chinese pedigrees affected with Piebaldism.</p><p><b>METHODS</b>Clinical data of the pedigrees was collected. Genomic DNA was extracted from blood samples collected from the pedigrees and 120 unrelated healthy controls. All coding exons of the KIT gene were subjected to PCR amplification and direct sequencing.</p><p><b>RESULTS</b>Two missense mutations, c.1861G>A(p.Ala621Thr) and c.1872G>A(p.Met624Ile), were identified respectively in the two pedigrees. Neither mutation was found among healthy members from the respective pedigree and the 120 unrelated healthy controls. c.1872G>A is a novel mutation.</p><p><b>CONCLUSION</b>Mutations of the KIT gene may affect the structure and function of the transmembrane receptor KIT, which lead to the disease.</p>