Ann Dermatol.
2023 Nov;35(Suppl2):S234-S238. 10.5021/ad.21.134.
Novel Compound Heterozygous Mutations of TGM1 Gene Identified in a Turkish Collodion Baby Diagnosed with Non-Bullous Congenital Ichthyosiform Erythroderma
- Gülnerman EK
1 - Hanedan N1
- Akillioglu M2
- Kayhan G3
- Adişen E4
- Erdem 5
- Hirfanoğlu 1
- Ergenekon E1
- Önal EE1
- Türkyilmaz C1
- Koç E1
- Affiliations
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- 1Department of Neonatology, Gazi University Faculty of Medicine, Ankara, Turkey
- 2Department of Pediatrics, Gazi University Faculty of Medicine, Ankara, Turkey
- 3Department of Medical Genetics, Gazi University Faculty of Medicine, Ankara, Turkey
- 4Department of Dermatology, Gazi University Faculty of Medicine, Ankara, Turkey
- 5Department of Pathology, Gazi University Faculty of Medicine, Ankara, Turkey
- KMID: 2548850
- DOI: http://doi.org/10.5021/ad.21.134
Abstract
- 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.
