A Familial 4q12 Deletion Involving KIT Gene Causes Piebaldism

T Piebaldism is a rare, autosomal dominant disorder characterized by the congenital absence of melanocytes in affected areas of the skin and hair. We report on a familial 4q12 deletion that involves the KIT gene and causes piebaldism in affected individuals. Wholegenome genotyping analysis of the proband using HumanCytoSNP12v2.1 BeadChips (Illumina Inc., San Diego, CA, USA, revealed a 1.34-Mb microduplication of 1q21.1q21.2 and a 2.7-Mb microdeletion of 4q12. The analysis of the parents confirmed the paternal origin of the 4q12 microdeletion. The clinical and molecular findings in the proband and his affected relatives showed that the 2.7-Mb 4q12 microdeletion, the smallest microdeletion reported to date, causes isolated piebaldism due to the loss of the KIT gene

A Familial 4q12 Deletion Involving KIT Gene Causes Piebaldism

T Piebaldism is a rare, autosomal dominant disorder characterized by the congenital absence of melanocytes in affected areas of the skin and hair. We report on a familial 4q12 deletion that involves the KIT gene and causes piebaldism in affected individuals. Wholegenome genotyping analysis of the proband using HumanCytoSNP12v2.1 BeadChips (Illumina Inc., San Diego, CA, USA, revealed a 1.34-Mb microduplication of 1q21.1q21.2 and a 2.7-Mb microdeletion of 4q12. The analysis of the parents confirmed the paternal origin of the 4q12 microdeletion. The clinical and molecular findings in the proband and his affected relatives showed that the 2.7-Mb 4q12 microdeletion, the smallest microdeletion reported to date, causes isolated piebaldism due to the loss of the KIT gene

A Familial 4q12 Deletion Involving KIT Gene Causes Piebaldism

Piebaldism is a rare, autosomal dominant disorder characterized by the congenital absence of melanocytes in affected areas of the skin and hair. We report on a familial 4q12 deletion that involves the KIT gene and causes piebaldism in affected individuals. Wholegenome genotyping analysis of the proband using HumanCytoSNP- 12v2.1 BeadChips (Illumina Inc., San Diego, CA, USA, revealed a 1.34-Mb microduplication of 1q21.1q21.2 and a 2.7-Mb microdeletion of 4q12. The analysis of the parents confirmed the paternal origin of the 4q12 microdeletion. The clinical and molecular findings in the proband and his affected relatives showed that the 2.7-Mb 4q12 microdeletion, the smallest microdeletion reported to date, causes isolated piebaldism due to the loss of the KIT gen

Research of genomic loci of piebaldism

Research of Genomic Loci of Piebaldism Piebaldism is a rare, autosomal dominant genetic disorder, characterised by the congenital absence of melanocytes in the affected areas of the skin and hair. KIT and SNAI2 genes, which coding proteins are involved in differentiation of melanocytes and their migration from neural crest, are known to be associated with this condition. The main focus of the study was to determine possible molecular causes for piebald phenotype in three clinically affected patients. Sequencing of KIT gene’s coding exons was performed for two of them, and the results of the third patient was collected and analysed after comparative genome hybridization analysis. For one of the patients, a likely pathogenic novel missense variant NM_000222:c1960G>A was identified in exon 13 of the KIT gene. Furthermore, 2.7 Mb deletion in 4q12 was detected in another patient, which provides an additional evidence that the haploinsufficiency of the KIT gene is associated with piebaldism