SYNDROMIC HIDRADENITIS SUPPURATIVA: GENOTYPE-PHENOTYPE CORRELATION THROUGH WHOLE-EXOME SEQUENCING IN 10 UNRELATED PATIENTS
Tesi di Dottorato
Data di Pubblicazione:
2022
Citazione:
SYNDROMIC HIDRADENITIS SUPPURATIVA: GENOTYPE-PHENOTYPE CORRELATION THROUGH WHOLE-EXOME SEQUENCING IN 10 UNRELATED PATIENTS / G. Genovese ; tutor: A. V. Marzano ; coordinatore: M. Del Fabbro. Dipartimento di Fisiopatologia Medico-Chirurgica e dei Trapianti, 2022 Dec 14. 35. ciclo, Anno Accademico 2022.
Abstract:
Background: The genetics of syndromic hidradenitis suppurativa (HS), an immune-mediated condition associated with systemic comorbidities such as inflammatory bowel diseases and arthritis, has not been completely elucidated.
Objective: To describe clinical features and genetic signature of patients with the main syndromic HS forms, i.e., PASH, PAPASH, and PASH/SAPHO overlapping.
Methods: Whole-exome sequencing (WES) approach was performed in ten patients with syndromic HS.
Results: Three clinical settings have been identified based on presence/absence of gut and joint inflammation. Four PASH patients who had also gut inflammation showed three different variants in NOD2 gene, two variants in OTULIN, and a variant in GJB2, respectively. Three PAPASH and three PASH/SAPHO overlapping patients who had also joint inflammation showed two different variants in NCSTN, one in WDR1 and PSTPIP1, and two variants in NLRC4, one of whom was present in a patient with a mixed phenotype characterized by gut and joint inflammation.
Limitations: Limited number of patients that can be counterbalanced by the rarity of syndromic HS.
Conclusion: Syndromic HS can be considered as a polygenic autoinflammatory condition; currently WES is a diagnostic tool allowing more accurate genotype-phenotype correlation.
Tipologia IRIS:
Tesi di dottorato
Elenco autori:
G. Genovese
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