Mutation update for CYP4F22 variants associated with autosomal recessive congenital ichthyosis.

Human Mutation
A HotzJudith Fischer

Abstract

Autosomal recessive congenital ichthyosis (ARCI) is a heterogeneous group of rare disorders of keratinization characterized by generalized abnormal scaling of the skin. Ten genes are currently known to be associated with ARCI: TGM1, ALOXE3, ALOX12B, NIPAL4 (ICHTHYIN), ABCA12, CYP4F22, PNPLA1, CERS3, SDR9C7, and SULT2B1. Over a period of 22 years, we have studied a large patient cohort from 770 families with a clinical diagnosis of ARCI. Since the first report that mutations in the gene CYP4F22 are causative for ARCI in 2006, we have identified 54 families with pathogenic mutations in CYP4F22 including 23 previously unreported mutations. In this report, we provide an up-to-date overview of all published and novel CYP4F22 mutations and point out possible mutation hot spots. We discuss the molecular and clinical findings, the genotype-phenotype correlations and consequences on genetic testing.

References

Oct 1, 1997·Journal of Computational Biology : a Journal of Computational Molecular Cell Biology·M G ReeseD Haussler
Mar 11, 2000·American Journal of Human Genetics·E VirolainenA Palotie
May 5, 2001·Genome Research·P C Ng, S Henikoff
Jan 27, 2006·Human Molecular Genetics·Caroline LefèvreJudith Fischer
Nov 24, 2007·Archives of Dermatological Research·Jennie LugassyEli Sprecher
Apr 3, 2009·Nucleic Acids Research·François-Olivier DesmetChristophe Béroud
Apr 1, 2010·Nature Methods·Ivan A AdzhubeiShamil R Sunyaev
Apr 27, 2011·The British Journal of Dermatology·K NatsugaH Shimizu
Sep 21, 2012·The Journal of Investigative Dermatology·Claire A ScottDavid P Kelsell
Apr 30, 2013·Clinical and Experimental Dermatology·S IsraeliE Sprecher
Apr 1, 2014·Nature Methods·Jana Marie SchwarzDominik Seelow
Jul 2, 2014·Human Genomics·Hashem A ShihabTom R Gaunt
May 23, 2015·The British Journal of Dermatology·H BučkováL Fajkusová
Jun 10, 2015·Proceedings of the National Academy of Sciences of the United States of America·Yusuke OhnoAkio Kihara
Jan 15, 2016·Orphanet Journal of Rare Diseases·Andrea DiociaiutiAdriano Angioni
Mar 5, 2016·Human Mutation·Johan T den DunnenPeter E M Taschner
Aug 19, 2016·Nature·Monkol LekUNKNOWN Exome Aggregation Consortium
Oct 14, 2016·Clinical and Experimental Dermatology·C FengY Yang

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Citations

Mar 1, 2019·The British Journal of Dermatology·C HasJ Fischer
Jan 25, 2020·Proceedings of the National Academy of Sciences of the United States of America·Haruka YamamotoAkio Kihara
May 8, 2019·Journal of the European Academy of Dermatology and Venereology : JEADV·A M De PalmaM A Morren
Oct 18, 2020·Journal of Dermatological Science·Tomohiro NoharaAkio Kihara

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