Homozygosity for piebaldism with a proven KIT mutation resulting in depigmentation of the skin and hair, deafness, developmental delay and autism spectrum disorder

Clin Dysmorphol. 2013 Apr;22(2):64-67. doi: 10.1097/MCD.0b013e32835e8ce5.

Authors

Amanda J Kilsby¹, Michele Cruwys, Chelvi Kukendrajah, Isabelle Russell-Eggitt, Ewa Raglan, Kaukab Rajput, Peter Loshe, Angela F Brady

Affiliation

¹ North West Thames Regional Genetics Service (Kennedy Galton Centre), Northwick Park Hospital, NWLH NHS Trust, Harrow Departments of Paediatrics Community Paediatrics, Hillingdon Hospital, Uxbridge, Middlesex Departments of Ophthalmology Audiological Medicine, Great Ormond Street Hospital, London, UK Molecular Genetics Laboratory, University of Munich, Munich, Germany.

PMID: 23399981
DOI: 10.1097/MCD.0b013e32835e8ce5

No abstract available

Publication types

Case Reports

MeSH terms

Child Development Disorders, Pervasive / genetics*
Comparative Genomic Hybridization
DNA Mutational Analysis
Deafness / genetics*
Developmental Disabilities / genetics
Exons
Heterozygote
Homozygote*
Humans
Infant
Infant, Newborn
Male
Piebaldism / genetics*
Proto-Oncogene Proteins c-kit / genetics*
alpha-Thalassemia / genetics

Substances

Proto-Oncogene Proteins c-kit