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Autosomal dominant moyamoya disease maps to chromosome 17q25.3

Y Mineharu1, W Liu, K Inoue

  • 1Department of Health and Environmental Sciences, Kyoto University Graduate School of Medicine, Kyoto, Japan.

Neurology
|May 9, 2008
PubMed
Abstract

Insights

Researchers identified a major gene locus for autosomal dominant moyamoya disease (MMD) on chromosome 17q25.3. This finding advances understanding of the genetic basis of this rare cerebrovascular condition.

Area of Science:

  • Genetics
  • Neurology
  • Cerebrovascular Disease

Background:

  • Moyamoya disease (MMD) is a rare idiopathic steno-occlusive cerebrovascular disease.
  • MMD is a significant cause of stroke, particularly in certain populations.
  • The underlying etiology of MMD remains largely unknown.

Purpose of the Study:

  • To identify the genetic locus responsible for autosomal dominant moyamoya disease.
  • To perform genome-wide parametric linkage analysis in Japanese families with MMD.

Main Methods:

  • Genome-wide parametric linkage analysis was conducted on 15 extended Japanese families.
  • Affected member-only analysis was used due to incomplete and age-dependent penetrance.
  • Linkage analyses were performed under narrow and broad diagnostic classifications.

Main Results:

  • Significant linkage evidence for MMD was consistently observed on chromosome 17q25.3.
  • Maximum multipoint logarithm of odds (lod) scores reached 8.07 under the broad classification.
  • Haplotype analysis mapped the MMD locus to a 3.5-Mb region on 17q25.3, containing 94 genes.

Conclusions:

  • A major gene locus for autosomal dominant moyamoya disease is located on chromosome 17q25.3.
  • This finding provides a critical step towards elucidating the genetic architecture of MMD.

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