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Article

AP4B1-associated hereditary spastic paraplegia: expansion of phenotypic spectrum related to homozygous p.Thr387fs variant.

Journal of applied genetics - 1 May 2020

Szczałuba Krzysztof, Mierzewska Hanna, Śmigiel Robert, Kosińska Joanna, Koppolu Agnieszka, Biernacka Anna, Stawiński Piotr, Pollak Agnieszka, Rydzanicz Małgorzata, Płoski Rafał

Abstract excerpt

Biallelic mutations in the AP4B1 gene, encoding adaptor-related protein complex 4 beta-1 subunit, have been recognized as an important cause of a group of conditions leading to adaptor-related protein complex 4 (AP4)-associated hereditary spastic paraplegia (SPG47). We describe a homozygous, known variant c.1160_1161delCA (p.Thr387fs) that was found in the largest ever group of patients coming from four families....

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Identifiers

PMID: 32166732
DOI: 10.1007/s13353-020-00552-w
PMCID: PMC7148264

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