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Article

A note of caution on the diagnosis of Martin-Probst syndrome by the detection of the p.D59G mutation in the RAB40AL gene.

European journal of pediatrics - 1 May 2015

Ołdak Monika, Ruszkowska Ewelina, Pollak Agnieszka, Sobczyk-Kopcioł Agnieszka, Kowalewski Cezary, Piwońska Aleksandra, Drygas Wojciech, Płoski Rafał

Abstract excerpt

UNLABELLED: Martin-Probst syndrome (MPS) is an X-linked multisystem neurodevelopmental disorder, reported to be caused by the p.D59G mutation in RAB40AL. Whereas evidence against the pathogenic role of p.D59G has been published, the presence of RAB40AL p.D59G continues to be used as a support for MPS diagnosis. Our purpose was to provide further arguments for excluding pathogenicity of RAB40AL p.D59G. We detected...

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Identifiers

PMID: 25370018
DOI: 10.1007/s00431-014-2452-x
PMCID: PMC4544553

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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