Human Molecular Genetics, Vol 6, 1505-1511, Copyright © 1997 by Oxford University Press
J Laporte, C Guiraud-Chaumeil, MC Vincent, JL Mandel, SM Tanner, S Liechti- Gallati, C Wallgren-Pettersson, N Dahl, W Kress, PA Bolhuis, M Fardeau, F Samson and E Bertini
X-linked recessive myotubular myopathy (XLMTM) is characterized by severe
hypotonia and generalized muscle weakness, with impaired maturation of
muscle fibres. The gene responsible, MTM1, was identified recently by
positional cloning, and encodes a protein (myotubularin) with a tyrosine
phosphatase domain (PTP). Myotubularin is highly conserved through
evolution and defines a new family of putative tyrosine phosphatases in
man. We report the identification of MTM1 mutations in 55 of 85 independent
patients screened by single-strand conformation polymorphism for all the
coding sequence. Large deletions were observed in only three patients. Five
point mutations were found in multiple unrelated patients, accounting for
27% of the observed mutations. The possibility of detecting mutations and
determining carrier status in a disease with a high proportion of sporadic
cases is of importance for genetic counselling. More than half of XLMTM
mutations are expected to inactivate the putative enzymatic activity of
myotubularin, either by truncation or by missense mutations affecting the
predicted PTP domain. Additional mutations are missenses clustered in two
regions of the protein. Most of these affect amino acids conserved in the
homologous yeast and Caenorhabditis elegans proteins, thus indicating the
presence of other functional domains.
ARTICLES
Mutations in the MTM1 gene implicated in X-linked myotubular myopathy. ENMC International Consortium on Myotubular Myopathy. European Neuro- Muscular Center
IGBMC, CNRS/INSERM/ULP, Illkirch, France.
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