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Article

A novel homozygous AP4B1 mutation in two brothers with AP-4 deficiency syndrome and ocular anomalies.

American journal of medical genetics. Part A - 1 Apr 2018

Accogli Andrea, Hamdan Fadi F, Poulin Chantal, Nassif Christina, Rouleau Guy A, Michaud Jacques L, Srour Myriam

Abstract excerpt

Adaptor protein complex-4 (AP-4) is a heterotetrameric protein complex which plays a key role in vesicle trafficking in neurons. Mutations in genes affecting different subunits of AP-4, including AP4B1, AP4E1, AP4S1, and AP4M1, have been recently associated with an autosomal recessive phenotype, consisting of spastic tetraplegia, and intellectual disability (ID). The overlapping clinical picture among individuals...

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Brain
Eye Abnormalities
Facies
Homozygote
Magnetic Resonance Imaging

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PMID: 29430868
DOI: 10.1002/ajmg.a.38628

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