Biallelic mutations in the homeodomain of NKX6-2 underlie a severe hypomyelinating leukodystrophy

• Published in: Brain (London, England : 1878) Vol. 140; no. 10; pp. 2550 - 2556
• Main Authors: 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
• Format: Journal Article
• Language: English
• Published: England 01.10.2017
• Subjects: Adolescent; Child; Child, Preschool; Consanguinity; DNA Mutational Analysis; Evoked Potentials, Auditory, Brain Stem; Family Health; Female; Genes, Homeobox - genetics; Homeodomain Proteins - genetics; Humans; Leukoencephalopathies - diagnostic imaging; Leukoencephalopathies - genetics; Leukoencephalopathies - pathology; Leukoencephalopathies - physiopathology; Magnetic Resonance Imaging; Male; Models, Molecular; Mutation - genetics; brain imaging; myelin; homeobox domain; NKX6-2; hypomyelinating leukodystrophies

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 re...