PMID: 8941665Dec 1, 1996Paper

Congenital recessive ichthyosis unlinked to loci for epidermal transglutaminases

The Journal of Investigative Dermatology
S J BaleJ J DiGiovanna

Abstract

Congenital recessive ichthyosis has a broad range of clinical presentations, which may be considered a spectrum of phenotypes with classic lamellar ichthyosis at one pole and classic congenital ichthyosiform erythroderma at the other. The identification of mutations in the transglutaminase-1 gene as a cause of lamellar ichthyosis implicates transglutaminases in other congenital recessive ichthyoses. We investigated two multiplex families with clinical manifestations between the two poles for linkage to the transglutaminase-1 locus on chromosome 14. Strongly negative lod scores prompted a search for linkage to two other epidermally expressed transglutaminases, transglutaminase-2 and transglutaminase-3, on chromosome 20. No evidence for linkage was found. These data confirm the hypothesis that the congenital recessive ichthyoses are genetically heterogeneous and in two families exclude two other transglutaminases that could be considered as candidate loci for at least some of the nonlamellar recessive ichthyoses.

References

Dec 8, 1972·Annals of the New York Academy of Sciences·S I Chung
Jun 1, 1994·Nature Genetics·G GyapayJ Weissenbach
Nov 1, 1994·The Journal of Investigative Dermatology·G RichardJ J DiGiovanna
Apr 1, 1996·Human Molecular Genetics·L ParmentierJ Weissenbach

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Citations

May 8, 1999·Experimental Dermatology·J TokA M Christiano
Feb 17, 1999·The British Journal of Dermatology·C Peña PenabadP Unamuno Pérez
Jan 30, 2003·American Journal of Clinical Dermatology·John J DiGiovanna, Leslie Robinson-Bostom
Dec 12, 2001·Neurochemistry International·Soo Youl KimPeter M Steinert
Dec 29, 1998·Journal of Dermatological Science·A Ishida-YamamotoH Iizuka
Feb 11, 1998·The Journal of Investigative Dermatology·C K BichakjianJ T Elder
Aug 21, 2001·The Journal of Investigative Dermatology·J M YangP M Steinert
May 23, 1998·American Journal of Human Genetics·H C HenniesA Reis
Sep 17, 2002·The Journal of Investigative Dermatology·Eleonora CandiGerry Melino
Feb 16, 2006·Actas dermo-sifiliográficas·Angela Hernández-Martín

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