Deletions in Xq28 in two boys with myotubular myopathy and abnormal genital development define a new contiguous gene syndrome in a 430 kb region.

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

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