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Inheritance pattern of familial moyamoya disease: autosomal dominant mode and genomic imprinting
Y Mineharu1, K Takenaka, H Yamakawa
1Department of Health and Environmental Sciences, Kyoto University Graduate School of Medicine, Yoshida, Kyoto 606-8501, Japan.
Background:
Although the aetiology of moyamoya disease (MMD) has not been fully clarified, genetic analysis of familial MMD (F-MMD) has considerable potential to disclose it.
Objective:
To determine the inheritance pattern and clinical characteristics of F-MMD to enable precise genetic analyses of the disease.
Methods:
15 highly aggregated Japanese families (52 patients; 38 women and 14 men) with three or more affected members were examined. The difference in categories of age at onset (child onset, adult onset and asymptomatic) between paternal and maternal transmission was compared by chi2 statistics.
Results:
In all families there had been three or more generations without consanguinity, and all types of transmission, including father-to-son, were observed. Among a total of 135 offspring of affected people, 59 (43.7%) were patients with MMD or obligatory carriers. Affected mothers were more likely to produce late-onset (adult-onset or asymptomatic) female offspring (p = 0.007).
Conclusions:
The mode of inheritance of F-MMD is autosomal dominant with incomplete penetrance. Thus, in future genetic studies on F-MMD, parametric linkage analyses using large families with an autosomal dominant mode of inheritance are recommended. Genomic imprinting may be associated with the disease.
Insights
Familial moyamoya disease (F-MMD) follows an autosomal dominant inheritance pattern with incomplete penetrance. Genetic studies should utilize large families to understand F-MMD, with genomic imprinting potentially playing a role.
Area of Science:
- Genetics
- Neurology
- Medical Research
Background:
- The exact cause of moyamoya disease (MMD) remains unclear.
- Genetic analysis of familial MMD (F-MMD) offers a pathway to understanding its etiology.
Purpose of the Study:
- To identify the inheritance pattern and clinical features of F-MMD.
- To facilitate precise genetic analyses for F-MMD.
Main Methods:
- Examined 15 highly aggregated Japanese families with at least three affected members (52 patients total).
- Compared age at onset categories (child, adult, asymptomatic) between paternal and maternal transmission using chi-squared statistics.
Main Results:
- Observed all transmission types, including father-to-son, across three generations without consanguinity.
- Identified 43.7% of 135 offspring as MMD patients or carriers.
- Found affected mothers more likely to have late-onset female offspring (p = 0.007).
Conclusions:
- Established F-MMD inheritance as autosomal dominant with incomplete penetrance.
- Recommended parametric linkage analyses in large families for future genetic studies.
- Suggested a potential association with genomic imprinting.
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