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High frequency of co-segregating CLCN1 mutations among myotonic dystrophy type 2 patients from Finland and Germany
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High frequency of co-segregating CLCN1 mutations among myotonic dystrophy type 2 patients from Finland and Germany
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Journal Article
High frequency of co-segregating CLCN1 mutations among myotonic dystrophy type 2 patients from Finland and Germany
2008
Overview
Based on previous reports the frequency of co-segregating recessive chloride channel (
CLCN1
) mutations in families with myotonic dystrophy type 2 (DM2) was suspected to be increased. We have studied the frequency of
CLCN1
mutations in two separate patient and control cohorts from Germany and Finland, and for comparison in a German myotonic dystrophy type 1 (DM1) patient cohort. The frequency of heterozygous recessive chloride channel (
CLCN1
) mutations is disproportionally higher (5 %) in currently diagnosed DM2 patients compared to 1.6 % in the control population (
p
= 0.037), while the frequency in DM1 patients was the same as in the controls. Because the two genes segregate independently, the prevalence of
CLCN1
mutations in the total DM2 patient population is, by definition, the same as in the control population. Our findings are, however, not based on the total DM2 population but on the currently diagnosed DM2 patients and indicate a selection bias in molecular diagnostic referrals. DM2 patients with co-segregating
CLCN1
mutation have an increased likelihood to be referred for molecular diagnostic testing compared to DM2 patients without co-segregating
CLCN1
mutation.
Publisher
D. Steinkopff-Verlag,Springer,Springer Nature B.V
