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

• Published in: American journal of medical genetics. Part A Vol. 176; no. 4; pp. 985 - 991
• Main Authors: Accogli, Andrea, Hamdan, Fadi F., Poulin, Chantal, Nassif, Christina, Rouleau, Guy A., Michaud, Jacques L., Srour, Myriam
• Format: Journal Article
• Language: English
• Published: United States Wiley Subscription Services, Inc 01.04.2018
• Subjects: Adaptor Protein Complex 4 - genetics; Adolescent; AP4B1; AP‐4 complex; AP‐4 deficiency; Atrophy; Brain - abnormalities; cataract; Cataracts; Child; Epilepsy; Eye; Eye Abnormalities - diagnosis; Eye Abnormalities - genetics; Face; Facies; Genetic Association Studies; Homozygote; Horner syndrome; Humans; Innervation; Magnetic Resonance Imaging; Male; Microcephaly; Mutation; Optic nerve; Pedigree; Phenotype; Phenotypes; Severity of Illness Index; Siblings; spastic tetraplegia; Spasticity; Substantia alba; Sympathetic nervous system; Syndrome; AP-4 complex; spastic tetraplegia; cataract; AP-4 deficiency; AP4B1; Horner syndrome

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, con...