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Article

Evidence against RAB40AL being the locus for Martin-Probst X-linked deafness-intellectual disability syndrome.

Human mutation - 1 Oct 2014

Ołdak Monika, Ścieżyńska Aneta, Młynarski Wojciech, Borowiec Maciej, Ruszkowska Ewelina, Szulborski Kamil, Pollak Agnieszka, Kosińska Joanna, Mueller-Malesińska Małgorzata, Stawiński Piotr, Szaflik Jacek P, Płoski Rafał

Abstract excerpt

RAB40AL has been reported as the locus for Martin-Probst syndrome (MPS), an X-linked deafness-intellectual disability syndrome. The report was based on segregation of a missense change p.D59G with the disease in a single family and in vitro localization studies. We found the p.D59G variant by whole-exome sequencing in two patients; however, the diagnosis of MPS was excluded in both cases. Furthermore, screening...

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Share to Abnormalities, Multiple
Share to Genetic Diseases, X-Linked

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 25044830
DOI: 10.1002/humu.22620

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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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