Skip to content
Home
About Us
Resources
Profiles Metrics
Authors Directory
Institutions Directory
Top Authors
Top Institutions
Top Sponsors
AI Digest
Contact Us
Menu
Home
About Us
Resources
Profiles Metrics
Authors Directory
Institutions Directory
Top Authors
Top Institutions
Top Sponsors
AI Digest
Contact Us
Home
About Us
Resources
Profiles Metrics
Authors Directory
Institutions Directory
Top Authors
Top Institutions
Top Sponsors
AI Digest
Contact Us
Menu
Home
About Us
Resources
Profiles Metrics
Authors Directory
Institutions Directory
Top Authors
Top Institutions
Top Sponsors
AI Digest
Contact Us
Publication Details
AFRICAN RESEARCH NEXUS
SHINING A SPOTLIGHT ON AFRICAN RESEARCH
biochemistry, genetics and molecular biology
Novel mutations in ALOX12B in patients with autosomal recessive congenital ichthyosis and evidence for genetic heterogeneity on chromosome 17p13
Journal of Investigative Dermatology, Volume 127, No. 4, Year 2007
Notification
URL copied to clipboard!
Description
We report clinical and molecular findings in 20 patients from 11 families with autosomal recessive congenital ichthyosis (ARCI) linked to chromosome 17p13, and attributed to mutations in the ALOX gene cluster, which includes three lipoxygenase genes, ALOXE3, ALOX12B, and ALOX15B. We identified six novel missense mutations and one novel deletion leading to a premature stop codon in ALOX12B in only six out of the 11 families which led us to investigate a possible implication of ALOX15B. Mutation analysis of this gene, as well as ALOXE3, which is known to be mutated in some cases of ARCI, failed to reveal causative mutations in the five remaining ARCI families, indicating that other genes on chromosome 17p13 may be involved in this disease. However, by adding new variants to the repertoire of ALOX12B mutations in non-bullous congenital ichthyosiform erythroderma, our data contribute to an enlargement of the spectrum of mutations for the development of efficient molecular genetic tests for analysis of at risk individuals whose carrier status is unknown. © 2006 The Society for Investigative Dermatology.
Authors & Co-Authors
Lesueur, Fabienne El Khoury
France, Evry
Centre National de Recherche en Génomique Humaine
Bouadjar, Bakar
Algeria, Algiers
Centre Hospitalo-universitaire Mohamed Lamine Debaghine
Lefèvre, Caroline
France, Evry
Centre National de Recherche en Génomique Humaine
Jobard, Florence
France, Evry
Centre National de Recherche en Génomique Humaine
Audebert, Stéphanie
France, Evry
Centre National de Recherche en Génomique Humaine
Lakhdar, Hakima
Morocco, Casablanca
Centre Hospitalier Universitaire Ibn Rochd
Martin, Ludovic
France, Orleans
Chr D'orléans
Tadini, Gianluca
Italy, Milan
Fondazione Irccs Ca' Granda Ospedale Maggiore Policlinico
Karaduman, Ayşen A.
Turkey, Ankara
Hacettepe Üniversitesi
Emre, Serap Dökmeci
Turkey, Ankara
Hacettepe Üniversitesi
Saker, Safaa
France, Evry
Généthon
Lathrop, Mark G.
France, Evry
Centre National de Recherche en Génomique Humaine
Fischer, Judith
France, Evry
Centre National de Recherche en Génomique Humaine
Statistics
Citations: 44
Authors: 13
Affiliations: 7
Identifiers
Doi:
10.1038/sj.jid.5700640
ISSN:
0022202X
e-ISSN:
15231747
Research Areas
Cancer
Genetics And Genomics
Maternal And Child Health