Ontology highlight
ABSTRACT:
SUBMITTER: Abu-Libdeh B
PROVIDER: S-EPMC5602013 | biostudies-literature | 2017 Oct
REPOSITORIES: biostudies-literature
Abu-Libdeh Bassam B Douiev Liza L Amro Sarah S Shahrour Maher M Ta-Shma Asaf A Miller Chaya C Elpeleg Orly O Saada Ann A
European journal of human genetics : EJHG 20170802 10
We describe a novel autosomal recessive form of mitochondrial disease in a child with short stature, poor weight gain, and mild dysmorphic features with highly suspected Fanconi anemia due to a mutation in COX4I1 gene. Whole Exome Sequencing was performed then followed by Sanger confirmation, identified a K101N mutation in COX4I1, segregating with the disease. This nuclear gene encodes the common isoform of cytochrome c oxidase (COX) subunit 4 (COX 4-1), an integral regulatory part of COX (respi ...[more]