Mutation in the X-linked RAB40AL gene (Martin-Probst syndrome) with mental retardation, sensorineural hearing loss, and anomalies of the craniofacies and genitourinary tract: a second case report

Eur J Pediatr. 2014 Jul;173(7):967-9. doi: 10.1007/s00431-014-2339-x. Epub 2014 May 27.

Abstract

An X-linked neurodevelopmental disorder previously had been reported in only one family, associated with a p.D59G mutation in the RAB40AL gene that encodes a mitochondrial Ras protein. The three related males described had varying degrees of cognitive impairment, sensorineural hearing loss, short stature, dysmorphic facies, and other morphological defects.

Conclusion: We herein present an unrelated 20-year-old male with similar manifestations also with p.D59G in the RAB40AL gene, which supports the existence of this condition previously coined as Martin-Probst syndrome (OMIM: 300519).

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple / diagnosis
  • Abnormalities, Multiple / genetics*
  • Craniofacial Abnormalities / genetics*
  • Developmental Disabilities / genetics*
  • Genetic Diseases, X-Linked / diagnosis
  • Genetic Diseases, X-Linked / genetics*
  • Hearing Loss, Sensorineural / diagnosis
  • Hearing Loss, Sensorineural / genetics*
  • Humans
  • Intellectual Disability / diagnosis
  • Intellectual Disability / genetics*
  • Male
  • Mitochondrial Proteins / genetics*
  • Mutation*
  • Urogenital Abnormalities / genetics*
  • Young Adult
  • ras Proteins / genetics*

Substances

  • Mitochondrial Proteins
  • RAB40AL protein, human
  • ras Proteins

Supplementary concepts

  • Martin-Probst Deafness-Mental Retardation Syndrome

Associated data

  • OMIM/300519