Abstract | BACKGROUND: METHODS: We performed clinical and molecular workups in two consanguineous Arab Palestinian families manifesting an autosomal recessive pattern of inheritance of the above mentioned clinical findings. Whole exome sequencing was employed in the search for the causing mutation. RESULTS: CONCLUSIONS: The association of woolly hair with palmoplantar keratoderma in a child should lead to a cardiac workup in the search for those at increased risk for sudden cardiac death. Early diagnosis and ICD implantation may be lifesaving. Whole exome sequencing should be utilized for rapid genetic analysis since the cardiocutaneous phenotype may result from mutations in one of several genes.
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Authors | Vered Molho-Pessach, Sivan Sheffer, Rula Siam, Spiro Tams, Ihab Siam, Rula Awwad, Sofia Babay, Julius Golender, Natalia Simanovsky, Yuval Ramot, Abraham Zlotogorski |
Journal | Pediatric dermatology
(Pediatr Dermatol)
2015 Sep-Oct
Vol. 32
Issue 5
Pg. 641-6
ISSN: 1525-1470 [Electronic] United States |
PMID | 25824144
(Publication Type: Journal Article, Research Support, Non-U.S. Gov't)
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Copyright | © 2015 Wiley Periodicals, Inc. |
Chemical References |
- DSP protein, human
- Desmoplakins
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Topics |
- Adolescent
- Cardiomyopathies
(genetics)
- Cardiomyopathy, Dilated
- Child
- Child, Preschool
- Consanguinity
- Desmoplakins
(genetics)
- Genetic Testing
- Hair Diseases
(genetics)
- Homozygote
- Humans
- Keratoderma, Palmoplantar
(genetics)
- Male
- Middle Aged
- Mutation, Missense
- Young Adult
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