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Article

Heterozygous SSBP1 start loss mutation co-segregates with hearing loss and the m.1555A>G mtDNA variant in a large multigenerational family.

Brain : a journal of neurology - 1 Jan 2018

Kullar Peter J, Gomez-Duran Aurora, Gammage Payam A, Garone Caterina, Minczuk Michal, Golder Zoe, Wilson Janet, Montoya Julio, Häkli Sanna, Kärppä Mikko, Horvath Rita, Majamaa Kari, Chinnery Patrick F

Abstract excerpt

The m.1555A>G mtDNA variant causes maternally inherited deafness, but the reasons for the highly variable clinical penetrance are not known. Exome sequencing identified a heterozygous start loss mutation in SSBP1, encoding the single stranded binding protein 1 (SSBP1), segregating with hearing loss in a multi-generational family transmitting m.1555A>G, associated with mtDNA depletion and multiple deletions in...

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Identifiers

PMID: 29182774
DOI: 10.1093/brain/awx295
PMCID: PMC5837410

Genes

SSBP1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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