Autosomal recessive congenital ichthyoses in the Czech Republic

Bučková, Hana; Nosková, Hana; Borská, Romana; Réblová, Kamila; Pinková, Blanka; Zapletalová, Eva; Kopečková, Lenka; Horký, Ondřej; Němečková, Jitka; Gaillyová, Renata; Nagy, Zsófia Brigitta; Veselý, Karel; Hermanová, Markéta; Stehlı́ková, Kristýna; Fajkusová, Lenka

doi:10.1111/bjd.13918

Cited by 22 publications

(29 citation statements)

References 12 publications

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“…The following databases were used for this study: The Exome Aggregation Consortium (ExAC; https://exac.broadinstitute.org/; Lek et al, 2016) (2016) (see Table 1). Before this report, 21 different pathogenic mutations in CYP4F22 had been reported in patients affected with ARCI (Bučková et al, 2016, Diociaiuti et al, 2016, Gruber et al, 2017, Israeli et al, 2013, Lefèvre et al, 2006, Lugassy et al, 2008, Palamar et al, 2015, Pigg et al, 2016, Scott et al 2013, Sugiura et al, 2013. Taken together, the total number of pathogenic mutations known to date is 44 (Table 1, Figure 1, and Supp.…”

Section: Methodsmentioning

confidence: 86%

“…Buckòvá et al. () postulated the existence of a founder effect for this mutation, since both Czech families analyzed in their study are distantly related. However, four families from our cohort come from Germany, Switzerland, and Denmark.…”

Section: The Spectrum Of Cyp4f22 Mutationsmentioning

confidence: 94%

“…() (see Table ). Before this report, 21 different pathogenic mutations in CYP4F22 had been reported in patients affected with ARCI (Bučková et al., , Diociaiuti et al., , Gruber et al., , Israeli et al., , Lefèvre et al., , Lugassy et al., , Palamar et al., , Pigg et al., , Scott et al. , Sugiura et al., ).…”

Section: The Spectrum Of Cyp4f22 Mutationsmentioning

confidence: 94%

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Mutation update for CYP4F22 variants associated with autosomal recessive congenital ichthyosis

et al. 2018

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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.

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Section: Methodsmentioning

confidence: 86%

Section: The Spectrum Of Cyp4f22 Mutationsmentioning

confidence: 94%

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Mutation update for CYP4F22 variants associated with autosomal recessive congenital ichthyosis

et al. 2018

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“…Mutations in CYP4F22 gene are responsible for the LI; it encodes a protein of the cytochrome‐P450 family 4 which is an epidermal ω ‐hydroxylase decisive for the formation of acylceramides. So far, LI due to CYP4F22 mutations is extremely rare, and only seven reports are available in the literature . In the present study, TN‐V‐7, TN‐V‐6, and TN‐V‐4 were born with a collodion membrane and had xerosis.…”

Section: Discussionmentioning

confidence: 65%

A Tunisian family with a novel mutation in the gene CYP4F22 for lamellar ichthyosis and co‐occurrence of hearing loss in a child due to mutation in the SLC26A4 gene

et al. 2019

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Background Co‐occurrence of two genetic diseases is challenging for accurate diagnosis and genetic counseling. The recent availability of whole exome sequencing (WES) has dramatically improved the molecular diagnosis of rare genetic diseases in particular in consanguineous populations. Methods We report here on a consanguineous family from Southern Tunisia including three members affected with congenital ichthyosis. The index case had a hearing loss (HL) and ichthyosis and was primarily suspected as suffering from keratitis‐ichthyosis‐deafness (KID) syndrome. WES was performed for the index case, and all members of the nuclear family were sequenced (Sanger method). Results The WES approach allowed the identification of two strong candidate variants in two different genes; a missense mutation c.1334T>G (p.Leu445Trp) in exon 11 of SLC26A4 gene, associated with isolated HL and a novel missense mutation c.728G>T (p.Arg243Leu) in exon 8 of CYP4F22 gene likely responsible for ichthyosis. These two mutations were predicted to be pathogenic by three pathogenicity prediction softwares (Scale‐Invariant Feature Transform [SIFT], Polymorphism Phenotyping [PolyPhen], Mutation Taster) to underlie the HL and ichthyosis, respectively. Conclusions The present study raises awareness about the importance of familial history for accurate diagnosis of syndromic genetic diseases and differential diagnosis with co‐occurrence of two distinct clinical entities. In addition, in countries with limited resources, WES sequencing for a single individual provides a cost effective tool for molecular diagnosis confirmation and genetic counseling.

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“…Exceptions are two LI cases (patients 57 and 64) who harbor nonsense and frameshift variants. Interestingly these two patients did not show a more severe phenotype compared to other LI patients who carried missense mutations in both alleles (Akiyama et al, ; Bučková et al, ; Chao, Aleshin, Goldstein, Worswick, & Hogeling, ; Esperón‐Moldes et al, ; Fukuda et al, ; Hellström‐Pigg et al, ; Israeli et al, ; Lefèvre et al, ; Loo et al, ; Murase et al, ; Natsuga et al, ; Nawaz et al, ; Numata et al, ; Sakai et al, ; Scott et al, ; Shimizu et al, ; Sitek et al, ; Thomas et al, ; Wada et al, ; Wakil et al, ). The majority of the genotype‐phenotype associations found in these patients are in accordance with the correlations previously established by Akiyama, with some few exceptions as previously stated (Akiyama, ).…”

Section: Discussionmentioning

confidence: 89%

A novel ABCA12 pathologic variant identified in an Ecuadorian harlequin ichthyosis patient: A step forward in genotype‐phenotype correlations

Montalván-Suárez

Esperón-Moldes

Rodríguez-Pazos

et al. 2019

Molec Gen & Gen Med

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Background Autosomal recessive congenital ichthyoses (ARCI) have been associated with different phenotypes including: harlequin ichthyosis (HI), congenital ichthyosiform erythroderma (CIE), and lamellar ichthyosis (LI). While pathogenic variants in all ARCI genes are associated with LI and CIE phenotypes, the unique gene associated with HI is ABCA12 . In HI, the most severe ARCI form, pathogenic variants in both ABCA12 gene alleles usually have a severe impact on protein function. The presence of at least one non‐truncating variant frequently causes a less severe congenital ichthyosis phenotype (LI and CIE). Methods We report the case of a 4‐year‐old Ecuadorian boy with a severe skin disease. Genetic diagnosis was performed by NGS. In silico predictions were performed using Alamut software v2.11. A review of the literature was carried out to identify all patients carrying ABCA12 splice‐site and missense variants, and to explore their genotype‐phenotype correlations. Results Genetic testing revealed a nonsense substitution, p.(Arg2204*), and a new missense variant, p.(Val1927Leu), in the ABCA12 gene. After performing in silico analysis and a comprehensive review of the literature, we conclude that p.(Val1927Leu) affects a well conserved residue which could either disturb the protein function or alter the splicing process, both alternatives could explain the severe phenotype of our patient. Conclusion This case expands the spectrum of ABCA12 reported disease‐causing variants which is important to unravel genotype‐phenotype correlations and highlights the importance of missense variants in the development of HI.

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Autosomal recessive congenital ichthyoses in the Czech Republic

Cited by 22 publications

References 12 publications

Mutation update for CYP4F22 variants associated with autosomal recessive congenital ichthyosis

Mutation update for CYP4F22 variants associated with autosomal recessive congenital ichthyosis

A Tunisian family with a novel mutation in the gene CYP4F22 for lamellar ichthyosis and co‐occurrence of hearing loss in a child due to mutation in the SLC26A4 gene

A novel ABCA12 pathologic variant identified in an Ecuadorian harlequin ichthyosis patient: A step forward in genotype‐phenotype correlations

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