{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,3]],"date-time":"2026-10-03T16:00:50Z","timestamp":1791043250984,"version":"4.1.0"},"reference-count":51,"publisher":"BMJ","issue":"5","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"accepted":{"date-parts":[[2012,3,23]]},"published-print":{"date-parts":[[2012,5]]},"abstract":"<jats:sec>\n                  <jats:title>Background and aim<\/jats:title>\n                  <jats:p>Martin\u2013Probst syndrome (MPS) is a rare X-linked disorder characterised by deafness, cognitive impairment, short stature and distinct craniofacial dysmorphisms, among other features. The authors sought to identify the causative mutation for MPS.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Methods and results<\/jats:title>\n                  <jats:p>Massively parallel sequencing in two affected, related male subjects with MPS identified a <jats:italic>RAB40AL<\/jats:italic> (also called <jats:italic>RLGP<\/jats:italic>) missense mutation (chrX:102,079,078-102,079,079AC<jats:bold>\u2192<\/jats:bold>GA p.D59G; hg18). <jats:italic>RAB40AL<\/jats:italic> encodes a small Ras-like GTPase protein with one suppressor of cytokine signalling box. The p.D59G variant is located in a highly conserved region of the GTPase domain between \u03b2-2 and \u03b2-3 strands. Using RT-PCR, the authors show that <jats:italic>RAB40AL<\/jats:italic> is expressed in human fetal and adult brain and kidney, and adult lung, heart, liver and skeletal muscle. <jats:italic>RAB40AL<\/jats:italic> appears to be a primate innovation, with no orthologues found in mouse, <jats:italic>Xenopus<\/jats:italic> or zebrafish. Western analysis and fluorescence microscopy of GFP-tagged RAB40AL constructs from transiently transfected COS7 cells show that the D59G missense change renders RAB40AL unstable and disrupts its cytoplasmic localisation.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Conclusions<\/jats:title>\n                  <jats:p>This is the first study to show that mutation of <jats:italic>RAB40AL<\/jats:italic> is associated with a human disorder. Identification of <jats:italic>RAB40AL<\/jats:italic> as the gene mutated in MPS allows for further investigations into the molecular mechanism(s) of RAB40AL and its roles in diverse processes such as cognition, hearing and skeletal development.<\/jats:p>\n               <\/jats:sec>","DOI":"10.1136\/jmedgenet-2011-100575","type":"journal-article","created":{"date-parts":[[2012,5,11]],"date-time":"2012-05-11T05:29:43Z","timestamp":1336714183000},"page":"332-340","source":"Crossref","is-referenced-by-count":19,"title":["Disruption of RAB40AL function leads to Martin\u2013Probst syndrome, a rare X-linked multisystem neurodevelopmental human disorder"],"prefix":"10.1136","volume":"49","author":[{"given":"Jirair Krikor","family":"Bedoyan","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Valerie 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