Full exome sequencing of 11 families with Hidradenitis suppurativa

© 2020 European Academy of Dermatology and Venereology..

BACKGROUND: Hidradenitis suppurativa (HS) is not a well-studied or easily treated disease. Genetic information is essential for advances in the understanding and treatment of HS. This study aims to examine mutations in the gamma-secretase complex, the Notch signalling pathway and to perform a Mendelian analysis of genetic variants that segregated with disease in a full exome sequencing of 11 families with HS.

METHOD: Whole-exome sequencing and Mendelian analysis of 11 families with HS from Denmark. Patients with a clinical diagnosis of active HS and a positive family history of HS were recruited. Consenting family members were enrolled and examined for HS as well. We included 11 families, with a total of 51 participants, 24 with HS and 27 without. Whole-exome sequencing using HiSeq platform as paired-end 2 × 150 bases was used.

RESULTS: We found mutations in the Notch pathway for all families. We found mutations in the PSENEN and APH1B of the gamma-secretase genes. We also report 161 variants of unknown significance that segregated with the disease within these families.

CONCLUSIONS: We did not find causative mutation for each family in this study, supporting the theory that HS is rarely caused by single-gene mutations. We suggest that future genetic studies should be focused on genome-wide association with thousands of cases, as this technique is better suited for suspected polygenic diseases.

Medienart:

E-Artikel

Erscheinungsjahr:

2021

Erschienen:

2021

Enthalten in:

Zur Gesamtaufnahme - volume:35

Enthalten in:

Journal of the European Academy of Dermatology and Venereology : JEADV - 35(2021), 5 vom: 20. Mai, Seite 1203-1211

Sprache:

Englisch

Beteiligte Personen:

Theut Riis, P [VerfasserIn]
Loft, I C [VerfasserIn]
Yazdanyar, S [VerfasserIn]
Kjaersgaard Andersen, R [VerfasserIn]
Pedersen, O B [VerfasserIn]
Ring, H C [VerfasserIn]
Huber, R [VerfasserIn]
Sultan, M [VerfasserIn]
Loesche, C [VerfasserIn]
Saunte, D M L [VerfasserIn]
Jemec, G B E [VerfasserIn]

Links:

Volltext

Themen:

Amyloid Precursor Protein Secretases
EC 3.4.-
Journal Article
Membrane Proteins
PSENEN protein, human

Anmerkungen:

Date Completed 14.05.2021

Date Revised 07.12.2022

published: Print-Electronic

Citation Status MEDLINE

doi:

10.1111/jdv.17095

funding:

Förderinstitution / Projekttitel:

PPN (Katalog-ID):

NLM31901410X