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Article

A novel homozygous p.R1105X mutation of the AP4E1 gene in twins with hereditary spastic paraplegia and mycobacterial disease.

PloS one - 1 Jan 2013

Kong Xiao-Fei, Bousfiha Aziz, Rouissi Abdelfettah, Itan Yuval, Abhyankar Avinash, Bryant Vanessa, Okada Satoshi, Ailal Fatima, Bustamante Jacinta, Casanova Jean-Laurent, Hirst Jennifer, Boisson-Dupuis Stéphanie

Abstract excerpt

We report identical twins with intellectual disability, progressive spastic paraplegia and short stature, born to a consanguineous family. Intriguingly, both children presented with lymphadenitis caused by the live Bacillus Calmette-Guérin (BCG) vaccine. Two syndromes - hereditary spastic paraplegia (HSP) and mycobacterial disease - thus occurred simultaneously. Whole-exome sequencing (WES) revealed a homozygous...

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Identifiers

PMID: 23472171
DOI: 10.1371/journal.pone.0058286
PMCID: PMC3589270

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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