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Phenotypes in siblings with homozygous mutations of TRAPPC9 and/or MCPH1 support a bifunctional model of MCPH1.

par Duerinckx, Sarah ;Meuwissen, Marije E C;Perazzolo, Camille ;Desmyter, Laurence ;Pirson, Isabelle ;Abramowicz, Marc
Référence Molecular genetics & genomic medicine
Publication Publié, 2018-04

Article révisé par les pairs

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Résumé :

Autosomal recessive intellectual disability (ARID) is vastly heterogeneous. Truncating mutations of TRAPPC9 were reported in 8 ARID families. Autosomal recessive primary microcephaly (MCPH) represents another subgroup of ARID, itself very heterogeneous, where the size of the brain is very small since birth. MCPH1 plays a role at the centrosome via a BRCT1 domain, and in DNA Damage Repair (DDR) via BRCT2 and BRCT3, and it is not clear which of these two mechanisms causes MCPH in man.