Article
Biallelic mutations in the homeodomain of NKX6-2 underlie a severe hypomyelinating leukodystrophy.
Brain : a journal of neurology - 1 Oct 2017
Dorboz Imen, Aiello Chiara, Simons Cas, Stone Robert Thompson, Niceta Marcello, Elmaleh Monique, Abuawad Mohammad, Doummar Diane, Bruselles Alessandro, Wolf Nicole I, Travaglini Lorena, Boespflug-Tanguy Odile, Tartaglia Marco, Vanderver Adeline, Rodriguez Diana, Bertini Enrico
Abstract excerpt
Hypomyelinating leukodystrophies are genetically heterogeneous disorders with overlapping clinical and neuroimaging features reflecting variable abnormalities in myelin formation. We report on the identification of biallelic inactivating mutations in NKX6-2, a gene encoding a transcription factor regulating multiple developmental processes with a main role in oligodendrocyte differentiation and regulation of...
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