Autosomal recessive primary microcephaly type 2 associated with a novel WDR62 splicing variant that disrupts the expression of the functional transcript

• Published in: Frontiers in neurology Vol. 15; p. 1341864
• Main Authors: Chen, Haizhu, Zheng, Ying, Wu, Hua, Cai, Naiqing, Xu, Guorong, Lin, Yi, Li, Jin-Jing
• Format: Journal Article
• Language: English
• Published: Switzerland Frontiers Media S.A 21.03.2024
• Subjects: autosomal recessive primary microcephaly type 2; brain malformation; consanguineous marriage; epilepsy; microcephaly; Neurology; WDR62 mutation; epilepsy; microcephaly; WDR62 mutation; consanguineous marriage; brain malformation; autosomal recessive primary microcephaly type 2

Autosomal recessive primary microcephaly (MCPH) is a rare neurodevelopmental disorder characterized primarily by congenital microcephaly and intellectual disability but without extra-central nervous system malformations. This investigation aimed to elucidate the genetic underpinnings of microcephaly...