ArticleEuropean journal of pediatrics2015
A note of caution on the diagnosis of Martin-Probst syndrome by the detection of the p.D59G mutation in the RAB40AL gene.
Article in European journal of pediatrics, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.
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Who cites it
3 citing papers in PubMed.
- A Rab-bit hole: Rab40 GTPases as new regulators of the actin cytoskeleton and cell migration.Frontiers in cell and developmental biology · 2023Review
- Methods to Study the Unique SOCS Box Domain of the Rab40 Small GTPase Subfamily.Methods in molecular biology (Clifton, N.J.) · 2021Article
- Consequences of Rab GTPase dysfunction in genetic or acquired human diseases.Small GTPases · 2018Review
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Authors and funding
8 authors.
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Abstract
unlabelledMartin-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 p.D59G in two healthy males ascertained as family members of p.D59G carriers who underwent whole exome sequencing for diagnostic reasons. Furthermore, we found that p.D59G was present in 2.86% (4/140) of randomly selected Polish males with higher education.
conclusionOur findings are inconsistent with a causative effect of RAB40AL p.D59G on cognitive impairment combined with severe to profound bilateral hearing loss but indicate that p.D59G is a common genetic variation. Our data emphasize the need for genotyping large sample sizes of diverse populations as a basic tool in determining variant pathogenicity.
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