Novel Compound Heterozygous Mutations of TGM1 Gene Identified in a Turkish Collodion Baby Diagnosed with Non-Bullous Congenital Ichthyosiform Erythroderma.

Autor:	Gülnerman EK; Department of Neonatology, Gazi University Faculty of Medicine, Ankara, Turkey. elifkeles.dr@gmail.com., Hanedan N; Department of Neonatology, Gazi University Faculty of Medicine, Ankara, Turkey., Akillioglu M; Department of Pediatrics, Gazi University Faculty of Medicine, Ankara, Turkey., Kayhan G; Department of Medical Genetics, Gazi University Faculty of Medicine, Ankara, Turkey., Adişen E; Department of Dermatology, Gazi University Faculty of Medicine, Ankara, Turkey., Erdem Ö; Department of Pathology, Gazi University Faculty of Medicine, Ankara, Turkey., Hirfanoğlu İM; Department of Neonatology, Gazi University Faculty of Medicine, Ankara, Turkey., Ergenekon E; Department of Neonatology, Gazi University Faculty of Medicine, Ankara, Turkey., Önal EE; Department of Neonatology, Gazi University Faculty of Medicine, Ankara, Turkey., Türkyilmaz C; Department of Neonatology, Gazi University Faculty of Medicine, Ankara, Turkey., Koç E; Department of Neonatology, Gazi University Faculty of Medicine, Ankara, Turkey.
Jazyk:	angličtina
Zdroj:	Annals of dermatology [Ann Dermatol] 2023 Nov; Vol. 35 (Suppl 2), pp. S234-S238.
DOI:	10.5021/ad.21.134
Abstrakt:	Autosomal recessive congenital ichthyosis (ARCI) is a group of diseases presenting as collodion baby at birth. ARCI is categorized as Harlequin ichthyosis, lamellar ichthyosis, and non-bullous congenital ichthyosiform erythroderma (NBCIE), bathing suit icthyosis (BSI) and others. We describe the case of a male newborn with NBCIE whose whole exome sequencing revealed two variants of TGM1 gene (NM_000359.3) in a compound heterozygous state: c.790C>T (p.Arg264Trp) in exon 5 and c.2060G>A (p.Arg687His) in exon 13. In the literature, the Arg264Trp variant has been reported as homozygous or compound heterozygous with other variants in patients with BSI. In contrast, the Arg687His variant has been reported only as homozygous in patients with BSI. To the best of our knowledge, this is the first case whose two compound heterozygous variants, exhibiting the NBCIE phenotype, instead of the BSI. Competing Interests: The authors have nothing to disclose. (Copyright © The Korean Dermatological Association and The Korean Society for Investigative Dermatology.)
Databáze:	MEDLINE
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