Molecular epidemiology of non-syndromic autosomal recessive congenital ichthyosis in a Middle-Eastern population.
ARCI
autosomal recessive congenital ichthyosis
congenital ichthyosiform erythroderma
epidemiology
lamellar ichthyosis
Journal
Experimental dermatology
ISSN: 1600-0625
Titre abrégé: Exp Dermatol
Pays: Denmark
ID NLM: 9301549
Informations de publication
Date de publication:
09 2021
09 2021
Historique:
revised:
04
03
2021
received:
29
12
2020
accepted:
26
03
2021
pubmed:
1
4
2021
medline:
29
3
2022
entrez:
31
3
2021
Statut:
ppublish
Résumé
Autosomal recessive congenital ichthyosis (ARCI) is a rare and heterogeneous skin cornification disorder presenting with generalized scaling and varying degrees of erythema. Clinical manifestations range from lamellar ichthyosis (LI), congenital ichthyosiform erythroderma (CIE) through the most severe form of ARCI, Harlequin ichthyosis (HI). We used homozygosity mapping, whole-exome and direct sequencing to delineate the relative distribution of pathogenic variants as well as identify genotype-phenotype correlations in a cohort of 62 Middle Eastern families with ARCI of various ethnic backgrounds. Pathogenic variants were identified in most ARCI-associated genes including TGM1 (21%), CYP4F22 (18%), ALOX12B (14%), ABCA12 (10%), ALOXE3 (6%), NIPAL4 (5%), PNPLA1 (3%), LIPN (2%) and SDR9C7 (2%). In 19% of cases, no mutation was identified. Our cohort revealed a higher prevalence of CYP4F22 and ABCA12 pathogenic variants and a lower prevalence of TGM1 and NIPAL4 variants, as compared to data obtained in other regions of the world. Most variants (89%) in ALOX12B were associated with CIE and were the most common cause of ARCI among patients of Muslim origin (26%). Palmoplantar keratoderma associated with fissures was exclusively a result of pathogenic variants in TGM1. To our knowledge, this is the largest cohort study of ARCI in the Middle-Eastern population reported to date. Our data demonstrate the importance of population-tailored mutation screening strategies and shed light upon specific genotype-phenotype correlations.
Types de publication
Journal Article
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Pagination
1290-1297Informations de copyright
© 2021 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.
Références
Oji V, Traupe H. Ichthyosis: clinical manifestations and practical treatment options. Am J Clin Dermatol. 2009;10(6):351-364.
Traupe H, Fischer J, Oji V. Nonsyndromic types of ichthyoses - an update. J Dtsch Dermatol Ges. 2014;12(2):109-121.
Chelliah MP, Zinn Z, Khuu P, Teng JMC. Self-initiated use of topical cannabidiol oil for epidermolysis bullosa. Pediatr dermatol. 2018;35(4):e224-e227.
Heinz L, Kim GJ, Marrakchi S, et al. Mutations in SULT2B1 cause autosomal-recessive congenital ichthyosis in humans. Am J Hum Genet. 2017;100(6):926-939.
Satapathy BC, Satapathy D. Collodion baby: a rare clinical entity. J Clin Diagn Res. 2017;11(1):SL02.
Pigg MH, Bygum A, Gånemo A, et al. Spectrum of autosomal recessive congenital ichthyosis in scandinavia: clinical characteristics and novel and recurrent mutations in 132 patients. Acta Derm Venereol. 2016;96(7):932-937.
Oji V, Tadini G, Akiyama M, et al. Revised nomenclature and classification of inherited ichthyoses: results of the first ichthyosis consensus conference in Sorèze 2009. J Am Acad Dermatol. 2010;63(4):607-641.
Fischer J. Autosomal recessive congenital ichthyosis. J Invest Dermatol. 2009;129(6):1319-1321.
Israeli S, Goldberg I, Fuchs-Telem D, et al. Non-syndromic autosomal recessive congenital ichthyosis in the Israeli population. Clin Exp Dermatol. 2013;38(8):911-916.
Abu Sa'd J, Indelman M, Pfendner E, et al. Molecular epidemiology of hereditary epidermolysis bullosa in a Middle Eastern population. J Invest Dermatol. 2006;126(4):777-781.
Ciubotaru D, Bergman R, Baty D, et al. Epidermolysis bullosa simplex in Israel: clinical and genetic features. Arch Dermatol. 2003;139(4):498-505.
Mizrachi-Koren M, Shemer S, Morgan M, et al. Homozygosity mapping as a screening tool for the molecular diagnosis of hereditary skin diseases in consanguineous populations. J Am Acad Dermatol. 2006;55(3):393-401.
Lugassy J, Hennies HC, Indelman M, Khamaysi Z, Bergman R, Sprecher E. Rapid detection of homozygous mutations in congenital recessive ichthyosis. Arch Dermatol Res. 2008;300(2):81-85.
Grall A, Guaguère E, Planchais S, et al. PNPLA1 mutations cause autosomal recessive congenital ichthyosis in golden retriever dogs and humans. Nat Genet. 2012;44(2):140-147.
Israeli S, Khamaysi Z, Fuchs-Telem D, et al. A mutation in LIPN, encoding epidermal lipase N, causes a late-onset form of autosomal-recessive congenital ichthyosis. Am J Hum Genet. 2011;88(4):482-487.
Mohamad J, Sarig O, Godsel LM, et al. Filaggrin 2 deficiency results in abnormal cell-cell adhesion in the cornified cell layers and causes peeling skin syndrome type A. J Invest Dermatol. 2018;138(8):1736-1743.
Wang K, Li M, Hakonarson H. ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data. Nucleic Acids Res. 2010;38(16):e164.
Adzhubei I, Jordan DM, Sunyaev SR. Predicting functional effect of human missense mutations using PolyPhen-2. Curr Protoc Hum Genet. 2013;76:70.20.1-70.20.41.
Kumar P, Henikoff S, Ng PC. Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm. Nat Protoc. 2009;4(7):1073-1081.
Berezin C, Glaser F, Rosenberg J, et al. ConSeq: the identification of functionally and structurally important residues in protein sequences. Bioinformatics. 2004;20(8):1322-1324.
Eckl KM, Tidhar R, Thiele H, et al. Impaired epidermal ceramide synthesis causes autosomal recessive congenital ichthyosis and reveals the importance of ceramide acyl chain length. J Invest Dermatol. 2013;133(9):2202-2211.
Bastaki F, Mohamed M, Nair P, et al. Summary of mutations underlying autosomal recessive congenital ichthyoses (ARCI) in Arabs with four novel mutations in ARCI-related genes from the United Arab Emirates. Int J Dermatol. 2017;56(5):514-523.
Simpson JK, Martinez-Quiepo M, Onoufriadis A, et al. Genotype-phenotype correlation in a large English cohort of autosomal recessive ichthyosis. Br J Dermatol. 2019;182(3):729-737.
Youssefian L, Vahidnezhad H, Saeidian AH, et al. Autosomal recessive congenital ichthyosis: genomic landscape and phenotypic spectrum in a cohort of 125 consanguineous families. Hum Mutat. 2019;40(3):288-298.
Farasat S, Wei MH, Herman M, et al. Novel transglutaminase-1 mutations and genotype-phenotype investigations of 104 patients with autosomal recessive congenital ichthyosis in the USA. J Med Genet. 2009;46(2):103-111.
Hennies HC, Küster W, Wiebe V, Krebsová A, Reis A. Genotype/phenotype correlation in autosomal recessive lamellar ichthyosis. Am J Hum Genet. 1998;62(5):1052-1061.
Bučková H, Nosková H, Borská R, et al. Autosomal recessive congenital ichthyoses in the Czech Republic. Br J Dermatol. 2016;174(2):405-407.
Ramar K, Annamalai S, Hariharavel VP, Aravindhan R, Ganesh C, Ieshwaryah K. Oral manifestation of autosomal recessive congenital ichthyosis in a 2-year-old patient. Case Rep Dent. 2014;2014:483293.
Pranitha V, Thimma Reddy BV, Daneswari V, Sudhanwan ND. Lamellar Icthyosis - a case report. J Clin Diagn Res. 2014;8(11):ZD01-ZD02.
Hannig C, Spitzmüller B, Miller M, Hellwig E, Hannig M. Intrinsic enzymatic crosslinking and maturation of the in situ pellicle. Arch Oral Biol. 2008;53(5):416-422.
Bradway SD, Bergey EJ, Scannapieco FA, Ramasubbu N, Zawacki S, Levine MJ. Formation of salivary-mucosal pellicle: the role of transglutaminase. Biochem J. 1992;284(Pt 2):557-564.
Palamar M, Karaca I, Onay H, Ertam I, Yagci A. Dry eye and Meibomian gland dysfunction with meibography in patients with lamellar ichthyosis. Cont Lens Anterior Eye. 2018;41(2):154-156.
Diaz LZ, Browning JC, Smidt AC, Rizzo WB, Levy ML. Complications of ichthyosis beyond the skin. Dermatol Ther. 2013;26(1):39-45.
Van Gysel D, Lijnen RL, Moekti SS, de Laat PC, Oranje AP. Collodion baby: a follow-up study of 17 cases. J Eur Acad Dermatol Venereol. 2002;16(5):472-475.
Angmo D, Patil B, Agarwal R, Mohanty K, Singh A. A unique case of JOAG with lamellar ichthyosis with rickets: a case report and review of the literature. J Glaucoma. 2016;25(3):e280-e283.
Pinna A, Ena P, Carta F. Eye changes in a patient with lamellar ichthyosis and toe pseudoainhum. Eye (Lond). 2004;18(4):445-446.
Maier D, Mazereeuw-Hautier J, Tilinca M, Cosgarea R, Jonca N. Novel mutation in NIPAL4 in a Romanian family with autosomal recessive congenital ichthyosis. Clin Exp Dermatol. 2016;41(3):279-282.
Martín-Santiago A, Rodríguez-Pascual M, Knöpfel N, Hernández-Martín Á. Otologic manifestations of autosomal recessive congenital ichthyosis in children. Actas Dermosifiliogr. 2015;106(9):733-739.
Vahlquist A, Bygum A, Gånemo A, et al. Genotypic and clinical spectrum of self-improving collodion ichthyosis: ALOX12B, ALOXE3, and TGM1 mutations in Scandinavian patients. J Invest Dermatol. 2010;130(2):438-443.
Vaigundan D, Kalmankar NV, Krishnappa J, Gowda NY, Kutty AV, Krishnaswamy PR. A novel mutation in the transglutaminase-1 gene in an autosomal recessive congenital ichthyosis patient. Biomed Res Int. 2014;2014:706827.
Casal ML, Wang P, Mauldin EA, Lin G, Henthorn PS. A defect in NIPAL4 Is associated with autosomal recessive congenital ichthyosis in American bulldogs. PLoS One. 2017;12(1):e0170708.
Alavi A, Shahshahani MM, Klotzle B, Fan JB, Ronaghi M, Elahi E. Manifestation of diffuse yellowish keratoderma on the palms and soles in autosomal recessive congenital ichthyosis patients may be indicative of mutations in NIPAL4. J Dermatol. 2012;39(4):375-381.
Akbari MT, Ataei-Kachoui M. Triallelic inheritance of TGM1 and ALOXE3 mutations associated with severe phenotype of ichtyosis in an Iranian family - a case report. Iran J Public Health. 2015;44(7):1004-1007.
Bochner R, Samuelov L, Sarig O, et al. Calpain 12 function revealed through the study of an atypical case of autosomal recessive congenital ichthyosis. J Invest Dermatol. 2017;137(2):385-393.