Fiche publication
Date publication
janvier 1996
Journal
Human molecular genetics
Auteurs
Membres identifiés du Cancéropôle Est :
Pr MANDEL Jean-Louis
Tous les auteurs :
Hu LJ, Laporte J, Kress W, Kioschis P, Siebenhaar R, Poustka A, Fardeau M, Metzenberg A, Janssen EA, Thomas N, Mandel JL, Dahl N
Lien Pubmed
Résumé
We have recently described a female patient with myotubular myopathy (MTM1) and an interstitial deletion at Xq28. Characterisation of the deletion allowed us to position the MTM1 gene to a 600 kb region between DXS304 and DXS497. In order to further restrict the region we screened for deletions in a set of 38 patients. We found two overlapping deletions in boys that in addition to MTM1 showed an unexpected abnormal genital development. As the latter phenotype is not found in the other non-deleted MTM1 patients, our observations are best explained by a contiguous gene syndrome. The deletions define a 430 kb region that contains the MTM1 gene and most likely a gene implicated in male sexual development. A high resolution physical map of this region is presented.
Mots clés
Base Sequence, Chromosome Mapping, Cloning, Molecular, Gene Deletion, Genetic Linkage, Genetic Markers, Genitalia, Male, abnormalities, Humans, Infant, Newborn, Male, Molecular Sequence Data, Muscle Hypotonia, genetics, Polymorphism, Restriction Fragment Length, Sequence Tagged Sites, Sex Chromosome Aberrations, genetics, Syndrome, X Chromosome
Référence
Hum. Mol. Genet.. 1996 Jan;5(1):139-43
