Indian Journal of Dermatology
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Year : 2023  |  Volume : 68  |  Issue : 2  |  Page : 141-147

An updated mutation spectrum of the γ-secretase complex: Novel NCSTN gene mutation in an Indian family with hidradenitis suppurativa and acne conglobata

1 From the Department of Life Sciences, Gujarat University, Ahmedabad, Gujarat, India
2 Zoology, School of Sciences, Gujarat University, Ahmedabad, Gujarat, India
3 Department of Dermatology, Annamalai University, Chidambaram, Tamil Nadu, India
4 Department of Obstetrics and Gynecology, Oakland University-William Beaumont School of Medicine, Royal Oak, MI, USA
5 Department of Medical Genetics, Lifeline Super Speciality Hospital, Adoor, Pathanamthitta, Kerala, India

Correspondence Address:
Uppala Radhakrishna
Department of Obstetrics and Gynecology, Oakland University-William Beaumont School of Medicine, Royal Oak, MI
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Source of Support: None, Conflict of Interest: None

DOI: 10.4103/ijd.ijd_995_21

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Background: Hidradenitis suppurativa (HS) is a complex, chronic inflammatory skin disorder whose pathophysiology is poorly understood. Genetic studies have shown that HS is predisposed by mutations in the γ-secretase gene, but only a proportion of familial and partial sporadic cases have been shown to possess such mutations. HS has high genetic heterogeneity and is thought to be triggered by a combination of genetics and environmental factors. Aims: The study aimed to investigate the genetic causes of HS in a large cohort of patients and to update the mutation spectrum of γ-secretase complex genes. Methods: We conducted mutational screening of 95 sporadic HS cases and one large family with both HS and acne conglobata (AC) to identify mutations in the coding and splice junction region of γ-secretase complex genes (nicastrin (NCSTN), presenilin 1 (PSEN1), presenilin enhancer 2 (PSENEN), and aph-1 homolog B, gamma-secretase subunit (APH1B)). Results: Our study identified a nucleotide substitution of 1876C>T in the NCSTN gene, which caused a stop codon (p.Arg626X) in the affected members of a large family with HS and AC. No pathogenic variants were detected in 95 sporadic cases of HS, indicating there is possible genetic heterogeneity. Conclusion: We report a new family with a nonsense mutation in the NCSTN gene that supports the role of the γ-secretase complex genes in HS with AC. The updated γ-secretase mutation spectrum for HS now includes 78 mutations.

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