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PRENATAL DIAGNOSIS OF X-LINKED MYOTUBULAR MYOPATHY: STRATEGIES USING NEW AND TIGHTLY LINKED DNA MARKERS

โœ Scribed by LING-JIA HU; JOCELYN LAPORTE; WOLFRAM KRESS; NIKLAS DAHL

Publisher
John Wiley and Sons
Year
1996
Tongue
English
Weight
834 KB
Volume
16
Category
Article
ISSN
0197-3851

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โœฆ Synopsis

X-linked myotubular myopathy (MTM 1) is a severe congenital myopathy characterized by hypotonia, muscle weakness, and associated respiratory insufficiency. Pennatal death is common. The disease locus was shown to be linked to polymorphic markers in Xq28 and we have recently refined the MTMl locus to a physical region of less than one megabase (Mb) at proximal Xq28. Two new microsatellite markers were developed and assigned in the MTM 1 candidate region. We applied them and other DNA markers for prenatal diagnosis in two families. In one case, an affected fetus was predicted and a recombination event was observed with two more distal markers in the region. The second fetus was born unaffected as predicted. The new DNA markers and the precise location of the MTMl gene provide an improvement for early prenatal diagnosis of the disease. We present suggestions for different combinations of linked and flanking DNA markers for maximal informativeness and accuracy.

๐Ÿ“œ SIMILAR VOLUMES

Confirmation of prenatal diagnosis resul
Confirmation of prenatal diagnosis results of X-linked recessive myotubular myopathy by mutational screening, and description of three new mutations in the MTM1 gene
โœ Stephan M. Tanner; Jocelyn Laporte; Christophe Guiraud-Chaumeil; Sabina Liechti- ๐Ÿ“‚ Article ๐Ÿ“… 1998 ๐Ÿ› John Wiley and Sons ๐ŸŒ English โš– 226 KB ๐Ÿ‘ 2 views

X-linked recessive myotubular myopathy (XLMTM; MTM1) is a severe neonatal disorder often causing perinatal death of the affected males. The responsible gene, designated MTM1, was localized to proximal Xq28 and recently isolated. The characterization of MTM1 allowed us to screen for causing mutations