Deletions in Xq28 in Two Boys with Myotubular Myopathy and Abnormal Genital Development Define a New Contiguous Gene Syndrome in a 430 kb Region
Open Access
- 1 January 1996
- journal article
- research article
- Published by Oxford University Press (OUP) in Human Molecular Genetics
- Vol. 5 (1), 139-143
- https://doi.org/10.1093/hmg/5.1.139
Abstract
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.This publication has 19 references indexed in Scilit:
- A YAC clone map spanning 7.5 megabases of human chromosome band Xq28Human Molecular Genetics, 1994
- X linked myotubular myopathy (MTM1) maps between DXS304 and DXS305, closely linked to the DXS455 VNTR and a new, highly informative microsatellite marker (DXS1684).Journal of Medical Genetics, 1994
- The gene for X-linked myotubular myopathy is located in an 8 Mb region at the border of Xq27.3 and Xq28Neuromuscular Disorders, 1994
- Report on the 20th ENMC Sponsored International Workshop: Myotubular/Centronuclear MyopathyNeuromuscular Disorders, 1994
- 1.5-Mb YAC Contig in Xq28 Formatted with Sequence-Tagged Sites and Including a Region Unstable in the ClonesGenomics, 1993
- Exon amplification: a strategy to isolate mammalian genes based on RNA splicing.Proceedings of the National Academy of Sciences of the United States of America, 1991
- X linked neonatal myotubular myopathy: one recombination detected with four polymorphic DNA markers from Xq28.Journal of Medical Genetics, 1990
- X linked neonatal centronuclear/myotubular myopathy: evidence for linkage to Xq28 DNA marker loci.Journal of Medical Genetics, 1990
- A linkage study of a large pedigree with X linked centronuclear myopathy.Journal of Medical Genetics, 1990
- X‐linked myotubular myopathy: a linkage studyClinical Genetics, 1990