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The novel contiguous gene syndrome of myotubular myopathy (MTM1), male hypogenitalism and deletion in Xq28:report of the first familial case
O. Bartsch, W. Kress, A. Wagner, E. Seemanova
Language English Country Switzerland
Document type Case Reports, Research Support, Non-U.S. Gov't
Grant support
IZ4350
MZ0
CEP Register
NE5685
MZ0
CEP Register
Digital library NLK
Full text - Část
Full text - Část
Source
Source
NLK
Karger Journals
from 1973 to 2001
ProQuest Central
from 1996-01-01 to 2001
Medline Complete (EBSCOhost)
from 1998-01-01 to 2001-12-31
Health & Medicine (ProQuest)
from 1996-01-01 to 2001
PubMed
10449925
Knihovny.cz E-resources
- MeSH
- X Chromosome * genetics MeSH
- Genetic Carrier Screening MeSH
- Adult MeSH
- In Situ Hybridization, Fluorescence MeSH
- Hypospadias diagnosis genetics MeSH
- Cryptorchidism diagnosis genetics MeSH
- Humans MeSH
- Protein Tyrosine Phosphatases, Non-Receptor MeSH
- Infant, Newborn MeSH
- Chromosome Banding MeSH
- Pedigree MeSH
- Sequence Deletion genetics MeSH
- Muscle Hypotonia diagnosis genetics MeSH
- Syndrome MeSH
- Protein Tyrosine Phosphatases genetics deficiency MeSH
- Loss of Heterozygosity genetics MeSH
- Check Tag
- Adult MeSH
- Humans MeSH
- Male MeSH
- Infant, Newborn MeSH
- Female MeSH
- Publication type
- Case Reports MeSH
- Research Support, Non-U.S. Gov't MeSH
Hu et al. (1996) and Laporte et al. (1997) recently proposed a novel contiguous gene syndrome of myotubular myopathy, abnormal male genital development and deletion in Xq28. We studied a family where two male infants, both deceased, had myotubular myopathy and intersexual genitalia. Using FISH we detected in the mother a hemizygous deletion including the myotubularin gene MTM1 and F18 (a gene of yet unknown function). DNA studies with STR-markers (short tandem repeats) within and flanking the deleted segment confirmed the deletion in the family and were used for prenatal diagnosis. Our findings confirm the existence of this novel contiguous gene syndrome and support that the deletion of the F18 gene, or a neighboring gene, may cause ambiguous genitalia or severe hypospadias in males. The mother had low muscle power and marked menstrual irregularities which may indicate that she is a manifesting carrier and that the deletion may include a gene (F18 or other) for gonadal function in females.
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