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Article

Comprehensive Molecular Analysis of Disease-Related Genes as First-Tier Test for Early Diagnosis, Classification, and Management of Patients Affected by Nonsyndromic Ichthyosis

by
Tiziana Fioretti
1,
Fabrizio Martora
2,
Ilaria De Maggio
3,
Adelaide Ambrosio
1,
Carmelo Piscopo
3,
Sabrina Vallone
1,4,
Felice Amato
1,4,
Diego Passaro
4,
Fabio Acquaviva
5,
Francesca Gaudiello
2,
Daniela Di Girolamo
6,
Valeria Maiolo
4,
Federica Zarrilli
1,4,
Speranza Esposito
1,4,
Giuseppina Vitiello
7,
Luigi Auricchio
2,
Elena Sammarco
8,
Daniele De Brasi
5,
Roberta Petillo
3,
Antonella Gambale
7,
Fabio Cattaneo
4,
Rosario Ammendola
4,
Paola Nappa
2 and
Gabriella Esposito
1,4,*add Show full author list remove Hide full author list
1
CEINGE Advanced Biotechnologies Franco Salvatore, 80145 Naples, Italy
2
Section of Dermatology, Department of Clinical Medicine and Surgery, School of Medicine, University of Naples “Federico II”, 80131 Naples, Italy
3
Medical and Laboratory Genetics Unit, AORN A. Cardarelli, 80131 Naples, Italy
4
Department of Molecular Medicine and Medical Biotechnologies, School of Medicine, University of Naples “Federico II”, 80131 Naples, Italy
5
Medical Genetics Unit, Department of General and Emergency Paediatrics, AORN Santobono-Pausilipon, 80122 Naples, Italy
6
Department of Biology, University of Naples “Federico II”, 80126 Naples, Italy
7
Medical Genetics Unit, Integrated Care Department of Laboratory and Transfusion Medicine, Federico II Hospital, 80131 Naples, Italy
8
Pediatric Dermatology Unit, Department of Dermo-Immuno-Rheumatology Paediatrics, AORN Santobono-Pausilipon, 80122 Naples, Italy
*
Author to whom correspondence should be addressed.
Biomedicines 2024, 12(5), 1112; https://doi.org/10.3390/biomedicines12051112
Submission received: 3 April 2024 / Revised: 7 May 2024 / Accepted: 13 May 2024 / Published: 17 May 2024
(This article belongs to the Special Issue Molecular Processes Underlying Pathogenesis and Advanced Therapies for Genodermatosis)
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Abstract

Inherited ichthyoses are a group of clinically and genetically heterogeneous rare disorders of skin keratinization with overlapping phenotypes. The clinical picture and family history are crucial to formulating the diagnostic hypothesis, but only the identification of the genetic defect allows the correct classification. In the attempt to molecularly classify 17 unrelated Italian patients referred with congenital nonsyndromic ichthyosis, we performed massively parallel sequencing of over 50 ichthyosis-related genes. Genetic data of 300 Italian unaffected subjects were also analyzed to evaluate frequencies of putative disease-causing alleles in our population. For all patients, we identified the molecular cause of the disease. Eight patients were affected by autosomal recessive congenital ichthyosis associated with ALOX12B, NIPAL4, and TGM1 mutations. Three patients had biallelic loss-of-function variants in FLG, whereas 6/11 males were affected by X-linked ichthyosis. Among the 24 different disease-causing alleles we identified, 8 carried novel variants, including a synonymous TGM1 variant that resulted in a splicing defect. Moreover, we generated a priority list of the ichthyosis-related genes that showed a significant number of rare and novel variants in our population. In conclusion, our comprehensive molecular analysis resulted in an effective first-tier test for the early classification of ichthyosis patients. It also expands the genetic, mutational, and phenotypic spectra of inherited ichthyosis and provides new insight into the current understanding of etiologies and epidemiology of this group of rare disorders.
Keywords: congenital nonsyndromic ichthyosis; molecular diagnosis; splicing variant; X-linked ichthyosis congenital nonsyndromic ichthyosis; molecular diagnosis; splicing variant; X-linked ichthyosis

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MDPI and ACS Style

Fioretti, T.; Martora, F.; De Maggio, I.; Ambrosio, A.; Piscopo, C.; Vallone, S.; Amato, F.; Passaro, D.; Acquaviva, F.; Gaudiello, F.; et al. Comprehensive Molecular Analysis of Disease-Related Genes as First-Tier Test for Early Diagnosis, Classification, and Management of Patients Affected by Nonsyndromic Ichthyosis. Biomedicines 2024, 12, 1112. https://doi.org/10.3390/biomedicines12051112

AMA Style

Fioretti T, Martora F, De Maggio I, Ambrosio A, Piscopo C, Vallone S, Amato F, Passaro D, Acquaviva F, Gaudiello F, et al. Comprehensive Molecular Analysis of Disease-Related Genes as First-Tier Test for Early Diagnosis, Classification, and Management of Patients Affected by Nonsyndromic Ichthyosis. Biomedicines. 2024; 12(5):1112. https://doi.org/10.3390/biomedicines12051112

Chicago/Turabian Style

Fioretti, Tiziana, Fabrizio Martora, Ilaria De Maggio, Adelaide Ambrosio, Carmelo Piscopo, Sabrina Vallone, Felice Amato, Diego Passaro, Fabio Acquaviva, Francesca Gaudiello, and et al. 2024. "Comprehensive Molecular Analysis of Disease-Related Genes as First-Tier Test for Early Diagnosis, Classification, and Management of Patients Affected by Nonsyndromic Ichthyosis" Biomedicines 12, no. 5: 1112. https://doi.org/10.3390/biomedicines12051112

APA Style

Fioretti, T., Martora, F., De Maggio, I., Ambrosio, A., Piscopo, C., Vallone, S., Amato, F., Passaro, D., Acquaviva, F., Gaudiello, F., Di Girolamo, D., Maiolo, V., Zarrilli, F., Esposito, S., Vitiello, G., Auricchio, L., Sammarco, E., Brasi, D. D., Petillo, R., ... Esposito, G. (2024). Comprehensive Molecular Analysis of Disease-Related Genes as First-Tier Test for Early Diagnosis, Classification, and Management of Patients Affected by Nonsyndromic Ichthyosis. Biomedicines, 12(5), 1112. https://doi.org/10.3390/biomedicines12051112

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