Article
A Cockayne-like phenotype resulting from a de novo variant in MORC2: expanding the phenotype of MORC2-related disorders.
Neurogenetics - 1 Oct 2022
Mirchi Amytice, Derksen Alexa, Tran Luan T, De Bie Isabelle, Nadeau Amélie, Lovett Audrey, Raams Anja, Vermeulen Wim, Theil Arjan F, Bernard Geneviève
Abstract excerpt
Cockayne syndrome is a rare inherited DNA repair multisystemic disorder. Here, we aim to raise awareness of the phenotypic resemblances between Cockayne syndrome and the neurodevelopmental disorder caused by pathogenic variants in MORC2, a gene also involved in DNA repair. Using exome sequencing, we identified a de novo pathogenic variant in MORC2 in our patient. Our patient's phenotype was characterized by...
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