Identification of novel KIT gene mutations in two Chinese families with piebaldism / 中华医学遗传学杂志

ABSTRACT

<p><b>OBJECTIVE</b>To screen for potential mutations of KIT gene for two Chinese families affected with piebaldism in order to facilitate genetic counseling and assisted reproduction.</p><p><b>METHODS</b>Peripheral blood samples were collected from 2 patients of family 1 and the proband and 3 unaffected members of family 2 for the extraction of DNA and RNA. PCR-sequencing and reverse transcription PCR-sequencing were used to screen KIT mutations.</p><p><b>RESULTS</b>All of the patients from family 1 were found to carry heterozygous IVS12+2-+7delinsACATCTTTA, a splicing mutation undocumented in the human gene mutation data base (HGMD) database. This mutation has resulted in c.1765-1779del in cDNA and p.Gly592Ala/del:E12, which has led to skipping of exon 12 and no expression of cDNA. The proband from family 2 has carried a heterozygous c.2401A>C mutation in KIT gene. The same mutation was not found in unaffected members.</p><p><b>CONCLUSION</b>We have attained definite diagnosis for both families, which has facilitated genetic counseling and assisted reproduction for our patients and their family members.</p>