Biallelic KITLG variants lead to a distinct spectrum of hypomelanosis and sensorineural hearing loss.

Barbara Vona D A Schwartzbaum A A RodriguezS S LewisM B ToosiP RadhakrishnanNazim Bozan Ramazan AkınM DoostiR ManjuDuygu Duman C J Sineni Sheela NampoothiriE G KarimianiHenry Houlden Güney Bademci Mustafa Tekin Katta Mohan Girisha Reza Maroofian Sofia Douzgou Houge

Published in: Journal of the European Academy of Dermatology and Venereology : JEADV (2022)

We provide consolidating evidence that biallelic KITLG variants cause a distinct auditory-pigmentary disorder. We evidence a significant clinical variability, similar to the one previously observed in KIT-related piebaldism.

Keyphrases

copy number
intellectual disability
working memory
dna methylation
genome wide