Paternal transmission of the congenital form of myotonic dystrophy type 1: A new case and review of the literature |
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| Authors: | Nancy Carson Donald T. Whelan |
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| Affiliation: | 1. Children's Hospital of Eastern Ontario, Ontario, Canada;2. Departments of Pediatrics and Biochemistry, Microbiology and Immunology, University of Ottawa, Ontario, Canada;3. Department of Pediatrics, McMaster University, Ontario, Canada;4. Department of Pathology and Molecular Medicine, Hamilton Regional Laboratory Medicine Program, Hamilton Health Sciences Corporation, Ontario, Canada |
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| Abstract: | Myotonic dystrophy type 1 (DM1) is an autosomal dominant trinucleotide repeat disorder that shows anticipation. The mildest manifestations of the DM gene are usually noted in individuals with the smallest repeat sizes, while congenital myotonic dystrophy (CDM) is the most common clinical outcome of the larger expansions. For many years, it was thought that CDM could only be maternally transmitted. However, in the last few years, cases of paternal transmission of CDM have been described. We report a child with the CDM phenotype and 1, 800 CTG repeats born to an asymptomatic father with 65 repeats and compare this case to the four currently in the literature. We note that polyhydramnios was present in the majority of cases and that all fathers whose status was known had small repeat sizes and/or were asymptomatic at the time of their child's birth. Although it may be unusual, the possibility of the paternal transmission of CDM should be mentioned when counseling families with DM. The men who are at highest risk may be those who have small repeats sizes and are asymptomatic. © 2001 Wiley‐Liss, Inc. |
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| Keywords: | genetic counseling congenital myotonic dystrophy mutation analysis sperm analysis |
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