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Article

Novel CYP4F22 mutations associated with autosomal recessive congenital ichthyosis (ARCI). Study of the CYP4F22 c.1303C>T founder mutation.

PloS one - 1 Jan 2020

Esperón-Moldes Uxia, Ginarte-Val Manuel, Rodríguez-Pazos Laura, Fachal Laura, Martín-Santiago Ana, Vicente Asunción, Jiménez-Gallo David, Guillén-Navarro Encarna, Sampol Loreto Martorell, González-Enseñat María Antonia, Vega Ana

Abstract excerpt

Mutations in CYP4F22 cause autosomal recessive congenital ichthyosis (ARCI). However, less than 10% of all ARCI patients carry a mutation in CYP4F22. In order to identify the molecular basis of ARCI among our patients (a cohort of ninety-two Spanish individuals) we performed a mutational analysis using direct Sanger sequencing in combination with a multigene targeted NGS panel. From these, eight ARCI families...

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Share to Amino Acid Substitution
Share to Cytochrome P-450 Enzyme System

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Founder Effect

Share to Genes, Recessive

Share to Ichthyosis, Lamellar

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Source

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Identifiers

PMID: 32069299
DOI: 10.1371/journal.pone.0229025
PMCID: PMC7028276

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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