Genotype–phenotype correlation in a large English cohort of patients with autosomal recessive ichthyosis

Recessive forms of congenital ichthyosis encompass a group of rare inherited disorders of keratinization leading to dry, scaly skin. So far, 13 genes have been implicated, but there is a paucity of data on genotype–phenotype correlation in some populations.

[1]  H. Hennies,et al.  Transglutaminase 1 Replacement Therapy Successfully Mitigates the Autosomal Recessive Congenital Ichthyosis Phenotype in Full-Thickness Skin Disease Equivalents. , 2019, The Journal of investigative dermatology.

[2]  P. Fortina,et al.  Autosomal recessive congenital ichthyosis: Genomic landscape and phenotypic spectrum in a cohort of 125 consanguineous families , 2019, Human mutation.

[3]  C. Bodemer,et al.  Management of congenital ichthyoses: European guidelines of care, part one , 2018, The British journal of dermatology.

[4]  C. Bodemer,et al.  Management of congenital ichthyoses: European guidelines of care, part two , 2018, The British journal of dermatology.

[5]  P. Fortina,et al.  Autosomal recessive congenital ichthyosis: CERS3 mutations identified by a next generation sequencing panel targeting ichthyosis genes , 2017, European Journal of Human Genetics.

[6]  J. Fischer,et al.  Inherited Nonsyndromic Ichthyoses: An Update on Pathophysiology, Diagnosis and Treatment , 2017, American Journal of Clinical Dermatology.

[7]  M. Lathrop,et al.  Mutations in SULT2B1 Cause Autosomal-Recessive Congenital Ichthyosis in Humans. , 2017, American journal of human genetics.

[8]  Shujiro Okuda,et al.  Mutations in SDR9C7 gene encoding an enzyme for vitamin A metabolism underlie autosomal recessive congenital ichthyosis , 2017 .

[9]  P. Fortina,et al.  Gene-Targeted Next Generation Sequencing Identifies PNPLA1 Mutations in Patients with a Phenotypic Spectrum of Autosomal Recessive Congenital Ichthyosis: The Impact of Consanguinity. , 2017, The Journal of investigative dermatology.

[10]  J. Fischer,et al.  Spectrum of Autosomal Recessive Congenital Ichthyosis in Scandinavia: Clinical Characteristics and Novel and Recurrent Mutations in 132 Patients. , 2016, Acta dermato-venereologica.

[11]  W. McLean.  Filaggrin failure – from ichthyosis vulgaris to atopic eczema and beyond , 2016, The British journal of dermatology.

[12]  Dan J Stein,et al.  Global and National Burden of Diseases and Injuries Among Children and Adolescents Between 1990 and 2013: Findings From the Global Burden of Disease 2013 Study. , 2016, JAMA pediatrics.

[13]  O. Sarig,et al.  Non‐syndromic autosomal recessive congenital ichthyosis in the Israeli population , 2013, Clinical and experimental dermatology.

[14]  R. Heilig,et al.  Mutations in CERS3 Cause Autosomal Recessive Congenital Ichthyosis in Humans , 2013, PLoS genetics.

[15]  J. Fischer,et al.  The expression of epidermal lipoxygenases and transglutaminase-1 is perturbed by NIPAL4 mutations: indications of a common metabolic pathway essential for skin barrier homeostasis. , 2012, The Journal of investigative dermatology.

[16]  R. González-Sarmiento,et al.  Prevalence of autosomal recessive congenital ichthyosis: a population-based study using the capture-recapture method in Spain. , 2012, Journal of the American Academy of Dermatology.

[17]  M. Ronaghi,et al.  Manifestation of diffuse yellowish keratoderma on the palms and soles in autosomal recessive congenital ichthyosis patients may be indicative of mutations in NIPAL4 , 2012, The Journal of dermatology.

[18]  F. Galibert,et al.  PNPLA1 mutations cause autosomal recessive congenital ichthyosis in golden retriever dogs and humans , 2012, Nature Genetics.

[19]  Á. Carracedo,et al.  Analysis of TGM1, ALOX12B, ALOXE3, NIPAL4 and CYP4F22 in autosomal recessive congenital ichthyosis from Galicia (NW Spain): evidence of founder effects , 2011, The British journal of dermatology.

[20]  D. Kelsell,et al.  Harlequin ichthyosis: a review of clinical and molecular findings in 45 cases. , 2011, Archives of dermatology.

[21]  O. Sarig,et al.  A mutation in LIPN, encoding epidermal lipase N, causes a late-onset form of autosomal-recessive congenital ichthyosis. , 2011, American journal of human genetics.

[22]  M. Akiyama.  ABCA12 mutations and autosomal recessive congenital ichthyosis: A review of genotype/phenotype correlations and of pathogenetic concepts a , 2010, Human mutation.

[23]  C. Bodemer,et al.  Revised nomenclature and classification of inherited ichthyoses: results of the First Ichthyosis Consensus Conference in Sorèze 2009. , 2010, Journal of the American Academy of Dermatology.

[24]  J. Fischer,et al.  Genotypic and clinical spectrum of self-improving collodion ichthyosis: ALOX12B, ALOXE3, and TGM1 mutations in Scandinavian patients. , 2010, The Journal of investigative dermatology.

[25]  R. Zechner,et al.  Mutations in the fatty acid transport protein 4 gene cause the ichthyosis prematurity syndrome. , 2009, American journal of human genetics.

[26]  J. Fischer.  Autosomal recessive congenital ichthyosis. , 2009, The Journal of investigative dermatology.

[27]  S. Steinberg,et al.  Novel transglutaminase-1 mutations and genotype–phenotype investigations of 104 patients with autosomal recessive congenital ichthyosis in the USA , 2008, Journal of Medical Genetics.

[28]  N. Dahl,et al.  Congenital ichthyosis: mutations in ichthyin are associated with specific structural abnormalities in the granular layer of epidermis , 2007, Journal of Medical Genetics.

[29]  M. Indelman,et al.  Autosomal recessive ichthyosis with hypotrichosis caused by a mutation in ST14, encoding type II transmembrane serine protease matriptase. , 2007, American journal of human genetics.

[30]  M. Lathrop,et al.  Mutations in a new cytochrome P450 gene in lamellar ichthyosis type 3. , 2006, Human molecular genetics.

[31]  M. Lathrop,et al.  Mutations in ichthyin a new gene on chromosome 5q33 in a new form of autosomal recessive congenital ichthyosis. , 2004, Human molecular genetics.

[32]  J. Weissenbach,et al.  Mutations in the transporter ABCA12 are associated with lamellar ichthyosis type 2. , 2003, Human molecular genetics.

[33]  J. Weissenbach,et al.  Lipoxygenase-3 (ALOXE3) and 12(R)-lipoxygenase (ALOX12B) are mutated in non-bullous congenital ichthyosiform erythroderma (NCIE) linked to chromosome 17p13.1. , 2002, Human molecular genetics.

[34]  J. Kere,et al.  Clinical and morphological correlations for transglutaminase 1 gene mutations in autosomal recessive congenital ichthyosis , 1999, European Journal of Human Genetics.

[35]  M. Ponec,et al.  Mutations of keratinocyte transglutaminase in lamellar ichthyosis , 1995, Science.