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- W4309479321 abstract "Several pathogenic mutations have been identified in the SPINK5 gene encoding kazal-type serine protease inhibitors (LEKTI) involved in the regulation of skin barrier formation resulting in Netherton syndrome NS. Our work aims to study the clinical, histological and genetic characteristics of Tunisian patients with NS. We investigated 15 patients with NS from 12 unrelated Tunisian families, referred to our department for genetic confirmation of their diagnosis. Clinical examination at birth showed non-bullous congenital ichthyosiform erythroderma (EIC) in 14 patients, bullous in only one. The scalp was the site of a diffuse scaly shell. Trichorrhexis Invaginata, as well as atopic dermatitis, were noticed in all patients. LEKTI immunostaining was negative in 14 patients and weakly positive in one patient. Direct sequencing of the SPINK5 gene identified a known homozygous splice site c.1888-1G>A mutation of exon 21 in 7 patients in favour of a founder effect. A homozygous c.2264dupA mutation at exon 24 was present in 2 patients. A homozygous c.2471delAAGA deletion in 2 related patients. A homozygous c.2441 + 3delCAGT mutation at the splice donor site of exon 25 in one patient. A new nonsense pathogenic variant homozygous c.217G> T at exon 4 in one patient. One patient was heterozygous for a new c.2302G> T mutation, the second pathogenic mutation has been not found yet, This same mutation was found in one patient at the homozygous state. We hypothesize that the existence of intra and inter-familial phenotypic differences between individuals carrying the same SPINK5 mutation suggests the interference of other epigenetic and environmental genetic factors in the expression of NS." @default.
- W4309479321 created "2022-11-28" @default.
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- W4309479321 date "2022-12-01" @default.
- W4309479321 modified "2023-09-23" @default.
- W4309479321 title "213 Genetic study of the largest Tunisian cohort of 15 patients with Netherton syndrome: Two new SPINK5 mutations and founder effect" @default.
- W4309479321 doi "https://doi.org/10.1016/j.jid.2022.09.224" @default.
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