Piebaldism: An Iranian case report carrying minor allele at rs999020 and rs1008658 SNPs of KIT gene

Dinani, Samaneh Tavassoli; Ghaedi, Kamran; Safinejad, Kyumars; Nasr-Esfahani, Mohammad Hossein

doi:10.1016/j.genrep.2019.100544

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Characteristic Of Depigmentation In To Balo1

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2019

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“…Recently, numbers of KIT mutation has been described in association with piebaldism, including Gly610Asp, Glu640Asp, Arg791Gly, Cys674Tyr; Tyr675Ser, Phe811Val, and Arg812Val. Dinani et al (2019), reported an Iranian 40-year old male with hypopigmented skin lesions on his face and limbs who diagnosed as a case of piebaldism. For the investigation of novel possible mutations of KIT result in piebaldism, they amplified and sequenced this gene from the patient and one control individual.…”

Section: Characteristic Of Depigmentation In To Balomentioning

confidence: 99%

Piebaldism in To Balo, South Sulawesi: Brief Report and Literature Review

Aziz¹,

Muthiadin²,

Nurfitrah³

2019

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Piebaldism is an autosomal dominant congenital disorder in pigment as a result of mutations in KIT gene, mapped on the long arm of chromosome 4. To Balo lived as a carrier of piebaldism genes. There are only four individuals of To Balo communities remained on Pujananting district, South Sulawesi. This study was a brief report and literature review about suspects of Piebaldism in To Balo. Data was collected by observation of depigmentation, interview and then depicted in pedigree. Phenotypic observations resulted in piebaldism on three individuals of To Balo, showed the same pattern and location of white patches. It is concluded that normal individuals could appear in third-generation when a woman or man carrier of piebaldism married with a normal individual.

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Section: Characteristic Of Depigmentation In To Balomentioning

confidence: 99%