Abstract:
:The Coffin-Lowry syndrome (CLS), an X-linked disorder, is characterized by severe psychomotor retardation, facial and digital dysmorphisms, and progressive skeletal deformations. Genetic linkage analysis mapped the CLS locus to an interval of 2-3 megabases at Xp22.2. The gene coding for Rsk-2, a member of the growth-factor-regulated protein kinases, maps within the candidate interval, and was tested as a candidate gene for CLS. Initial screening for mutations in the gene for Rsk-2 in 76 unrelated CLS patients revealed one intragenic deletion, a nonsense, two splice site, and two missense mutations. The two missenses affect sites critical for the function of Rsk-2. The mutated Rsk-2 proteins were found to be inactive in a S6 kinase assay. These findings provide direct evidence that abnormalities in the MAPK/RSK signalling pathway cause Coffin-Lowry syndrome.
journal_name
Naturejournal_title
Natureauthors
Trivier E,De Cesare D,Jacquot S,Pannetier S,Zackai E,Young I,Mandel JL,Sassone-Corsi P,Hanauer Adoi
10.1038/384567a0subject
Has Abstractpub_date
1996-12-12 00:00:00pages
567-70issue
6609eissn
0028-0836issn
1476-4687journal_volume
384pub_type
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