Studija slučaja

A Familial 4q12 Deletion Involving KIT Gene Causes Piebaldism

Justas Arasimavičius orcid.org/0000-0002-7498-4861 ; Department of Human and Medical Genetics, Institute of Biomedical Sciences, Faculty of Medicine, Vilnius University, Vilnius, Lithuania
Evelina Dilytė ; Life Sciences Center, Vilnius University, Vilnius, Lithuania
Algirdas Utkus ; Department of Human and Medical Genetics, Institute of Biomedical Sciences, Faculty of Medicine, Vilnius University, Vilnius, Lithuania
Eglė Preikšaitienė orcid.org/0000-0003-0282-134X ; Department of Human and Medical Genetics, Institute of Biomedical Sciences, Faculty of Medicine, Vilnius University, Vilnius, Lithuania

Sažetak

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.

Ključne riječi

piebaldism, proto-oncogene proteins c-kit, gene deletion

Hrčak ID:

281278

URI

https://hrcak.srce.hr/281278

Datum izdavanja:

16.7.2020.

Posjeta: 675 *