Identification of a novel locus associated with congenital recessive ichthyosis on 12p11.2-q13

Mordechai Mizrachi-Koren, Dan Geiger, Margarita Indelman, Ora Bitterman-Deutsch, Reuven Bergman, Eli Sprecher

Research output: Contribution to journalArticlepeer-review

23 Scopus citations


Congenital recessive ichthyoses represent a vast and markedly heterogeneous group of diseases that have been mapped to at least seven distinct chromosomal loci. In this study, we ascertained two consanguineous families presenting with congenital ichthyosis. Using homozygosity mapping, we identified a 6.5 cM homozygous region on 12p11.2-q13 shared by all affected individuals. Multipoint logarithm of odds ratio (LOD) score analysis placed the new locus between markers D12S345 and D12S390 with a maximum LOD score of 4.79 at marker CH12SSR13. This region harbors PPHLN1, encoding periphilin 1, a protein involved in the cornification process. No deleterious mutations were identified within the coding region of this gene, suggesting the existence of another gene associated with epidermal differentiation on 12p11.2-q13.

Original languageEnglish
Pages (from-to)456-462
Number of pages7
JournalJournal of Investigative Dermatology
Issue number3
StatePublished - Sep 2005
Externally publishedYes

Bibliographical note

Funding Information:
We are grateful to the family members for their participation in our study. We wish to thank Dr Vered Friedman for services in nucleic acid analysis, and Ma'ayan Fishelson and Anna Tzemach for computer assistance. This study was supported in part by a grant provided by the Ruth and Allen Ziegler Fund for Pediatric Research.


  • Cornification
  • Genetic
  • Homozygosity
  • Ichthyosis
  • Mapping
  • Periphilin


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