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Primary palmar hyperhidrosis locus maps to 14q11.2-q13
Ikuyo Higashimoto1, Koh-ichiro Yoshiura, Naomi Hirakawa
1Department of Anesthesiology, Faculty of Medicine, Saga University, Nabeshima, Saga, Japan.
American Journal of Medical Genetics. Part A
|February 14, 2006
Summary
Primary palmar hyperhidrosis (PPH), a disorder causing excessive sweating, has had its genetic locus mapped for the first time. Linkage analysis in 11 families identified a potential PPH gene region on chromosome 14q11.2-q13.
Area of Science:
- Genetics
- Dermatology
- Human Physiology
Background:
- Primary palmar hyperhidrosis (PPH) is a disorder characterized by excessive sweating of the palms, soles, and axillae.
- The exact cause of PPH is unknown, but it is suspected to involve overactivation of the sympathetic nervous system or autonomic nervous system dysfunction.
- No previous genetic studies have been conducted on PPH.
Purpose of the Study:
- To identify the genetic locus associated with primary palmar hyperhidrosis.
- To perform a genome-wide linkage analysis in families affected by PPH.
Main Methods:
- Genome-wide DNA polymorphic marker analysis was performed on 11 families (42 affected, 40 unaffected members).
- Diagnosis of PPH was confirmed through direct inspection, interviews, and sweating rate measurements.
- Linkage analysis and haplotype analysis were used to identify the disease locus.
Main Results:
- A significant linkage signal was detected at loci D14S283 and D14S264 on chromosome 14q11.2-q13 in three of the 11 families.
- The PPH locus was narrowed down to a 6-cM to 30-cM interval between markers D14S1070, D14S990, and D14S70.
- These specific chromosomal regions were excluded in the remaining eight families.
Conclusions:
- This study reports the first systemic mapping of a PPH locus.
- The findings suggest a potential genetic linkage on chromosome 14q11.2-q13 for primary palmar hyperhidrosis.
- Further research is warranted to pinpoint the specific gene(s) responsible for PPH.