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Article

Homozygous Mutations in TBC1D23 Lead to a Non-degenerative Form of Pontocerebellar Hypoplasia.

American journal of human genetics - 7 Sept 2017

Marin-Valencia Isaac, Gerondopoulos Andreas, Zaki Maha S, Ben-Omran Tawfeg, Almureikhi Mariam, Demir Ercan, Guemez-Gamboa Alicia, Gregor Anne, Issa Mahmoud Y, Appelhof Bart, Roosing Susanne, Musaev Damir, Rosti Basak, Wirth Sara, Stanley Valentina, Baas Frank, Barr Francis A, Gleeson Joseph G

Abstract excerpt

Pontocerebellar hypoplasia (PCH) represents a group of recessive developmental disorders characterized by impaired growth of the pons and cerebellum, which frequently follows a degenerative course. Currently, there are 10 partially overlapping clinical subtypes and 13 genes known mutated in PCH. Here, we report biallelic TBC1D23 mutations in six individuals from four unrelated families manifesting a...

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Identifiers

PMID: 28823706
DOI: 10.1016/j.ajhg.2017.07.015
PMCID: PMC5590949

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