title: 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.
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.
  
  
  CONCLUSIONS
  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).
authors.affiliation: Division of Medical Genetics, Children's Hospital Los Angeles, Box 90, Los Angeles, CA, 90027, USA, james.lee@med.lecom.edu.
authors.forename: James
authors.initials: J
authors.lastname: Lee
authors.forename: Stacey
authors.initials: S
authors.lastname: Wong
authors.forename: Richard G
authors.initials: RG
authors.lastname: Boles
mesh_terms: D000015:Abnormalities, Multiple / Q000175:diagnosis / Q000235:genetics*; D019465:Craniofacial Abnormalities / Q000235:genetics*; D002658:Developmental Disabilities / Q000235:genetics*; D040181:Genetic Diseases, X-Linked / Q000175:diagnosis / Q000235:genetics*; D006319:Hearing Loss, Sensorineural / Q000175:diagnosis / Q000235:genetics*; D006801:Humans; D008607:Intellectual Disability / Q000175:diagnosis / Q000235:genetics*; D008297:Male; D024101:Mitochondrial Proteins / Q000235:genetics*; D009154:Mutation; D014564:Urogenital Abnormalities / Q000235:genetics*; D055815:Young Adult; D018631:ras Proteins / Q000235:genetics*
chemical_list: D024101:Mitochondrial Proteins; C466300:RAB40AL protein, human; D018631:ras Proteins