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Journal of the American Academy of Dermatology
Volume 61, n° 5
pages 813-818 (novembre 2009)
Doi : 10.1016/j.jaad.2009.04.020
accepted : 6 April 2009
Original Articles

Mutations in lipase H cause autosomal recessive hypotrichosis simplex with woolly hair
 

Liran Horev, MD a, b, Antonella Tosti, MD c, Irit Rosen, BSc b, Klilah Hershko, MD d, Colombina Vincenzi, MD c, Krassimira Nanova, MD a, Alexander Mali, MD d, Tamara Potikha, PhD e, Abraham Zlotogorski, MD a, b,
a Department of Dermatology, Hadassah – Hebrew University Medical Center, Jerusalem, Israel 
d Department of Pathology, Hadassah – Hebrew University Medical Center, Jerusalem, Israel 
b Center for Genetic Diseases of the Skin and Hair, Hadassah – Hebrew University Medical Center, Jerusalem, Israel 
e Goldyne Savad Institute of Gene Therapy, Hadassah – Hebrew University Medical Center, Jerusalem, Israel 
c Department of Dermatology, University of Bologna, Bologna, Italy 

Correspondence to: Abraham Zlotogorski, MD, Department of Dermatology, Hadassah – Hebrew University Medical Center, PO Box 12000, Jerusalem 91120, Israel.
Abstract
Background

Mutations in lipase H (LIPH ) are a rare cause of autosomal recessive hypotrichosis (HT) simplex.

Objective

In this study, we investigated the clinical and molecular basis of HT simplex with woolly hair in 3 nonrelated families.

Methods

Three families of Jewish, Arab Muslim, and Italian origin that presented with HT with woolly hair were studied. The phenotype was confirmed by clinical, microscopic, and histologic examination. Polymorphic microsatellite genotyping and direct automated DNA sequencing of the LIPH gene were used to identify the mutations in our probands.

Results

All patients had woolly hair since birth. At presentation, scalp hair density was reduced or normal. Sequencing of the LIPH gene revealed two homozygous mutations: a large recurrent 90-base pair duplication mutation in exon 2 in the Jewish and Arab families, and a novel deletion/insertion mutation in exon 4 in the Italian family.

Limitations

Only 3 families were studied.

Conclusion

Mutations in LIPH result in variable degrees of HT. Woolly hair is an essential component of the clinical spectrum. A hot spot in the LIPH gene may be c.280_369dup in exon 2.

The full text of this article is available in PDF format.

Key words : hypotrichosis simplex, lipase H gene, mutation, woolly hair

Abbreviations used : HT, LIPH , PCR, LPA



 Supported by the Authority for Research and Development, Hebrew University of Jerusalem (Dr Zlotogorski).
 Conflicts of interest: None declared.
 Reprints not available from the authors.



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