Confirmation of prenatal diagnosis results of X-linked recessive myotubular myopathy by mutational screening, and description of three new mutations in the MTM1 gene

Human Mutation
S M TannerS Liechti-Gallati

Abstract

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 in three families, previously investigated by linkage analysis. Using exon amplification, single strand conformation polymorphism, and subsequent sequencing analysis, three new mutations and their mutational origin were characterized by analyzing 10 exons. An acceptor splice site and a frameshift mutation were correlated with the concurrent appearance of XLMTM in two families. A third intronic mutation was also analyzed by reverse transcription PCR and revealed a cryptic splice site mutation cosegregating with the presumed XLMTM haplotype in the third family. These results further support the implication of the MTM1 gene in XLMTM and allow efficient and reliable carrier and prenatal diagnosis in these families. Direct mutational diagnosis of families at risk in combination with haplotype analysis avoid the drawbacks using only linkage analysis, make genetic counselling far more reliable, and early clinical management of this disease...Continue Reading

References

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May 1, 1990·The Canadian Journal of Neurological Sciences. Le Journal Canadien Des Sciences Neurologiques·H B Sarnat
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Aug 1, 1996·Neuromuscular Disorders : NMD·Z SmolenickaS Liechti-Gallati

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Citations

Jan 20, 2012·European Journal of Human Genetics : EJHG·Nasim VasliJocelyn Laporte
Sep 6, 2005·Nucleic Acids Research·Jana KrálovicováIgor Vorechovský
May 2, 2000·Human Mutation·J LaporteJ L Mandel
Jan 12, 2010·Prenatal Diagnosis·Chih-Ping ChenWayseen Wang
Apr 17, 2001·Brain Pathology·A Bornemann, H H Goebel
Aug 31, 1999·Clinical Genetics·B G HäneC E Schwartz
Oct 6, 2005·Clinical Cancer Research : an Official Journal of the American Association for Cancer Research·Kaisa SotamaaAlbert de la Chapelle
Dec 20, 2020·International Journal of Molecular Sciences·Wei ChiuHao-Min Cheng

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