Homozygous mutation of STXBP5L explains an autosomal recessive infantile-onset neurodegenerative disorder.

doi:10.1093/hmg/ddu614

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Article

Homozygous mutation of STXBP5L explains an autosomal recessive infantile-onset neurodegenerative disorder.

Human molecular genetics - 1 Apr 2015

Kumar Raman, Corbett Mark A, Smith Nicholas J C, Jolly Lachlan A, Tan Chuan, Keating Damien J, Duffield Michael D, Utsumi Toshihiko, Moriya Koko, Smith Katherine R, Hoischen Alexander, Abbott Kim, Harbord Michael G, Compton Alison G, Woenig Joshua A, Arts Peer, Kwint Michael, Wieskamp Nienke, Gijsen Sabine, Veltman Joris A, Bahlo Melanie, Gleeson Joseph G, Haan Eric, Gecz Jozef

Abstract excerpt

We report siblings of consanguineous parents with an infantile-onset neurodegenerative disorder manifesting a predominant sensorimotor axonal neuropathy, optic atrophy and cognitive deficit. We used homozygosity mapping to identify an ∼12-Mbp interval identical by descent (IBD) between the affected individuals on chromosome 3q13.13-21.1 with an LOD score of 2.31. We combined family-based whole-exome and...

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PMID: 25504045
DOI: 10.1093/hmg/ddu614

Genes

FMNL3

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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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