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

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.PMID:38061711 | DOI:10.5021/ad.21.134

Source: Annals of Dermatology - December 7, 2023 Category: Dermatology Authors: Elif Kele ş Gülnerman Nurcan Hanedan Merve Akillioglu G ülsüm Kayhan Esra Adi şen Özlem Erdem İbrahim Murat Hirfanoğlu Ebru Ergenekon Eray Esra Önal Canan T ürkyilmaz Esin Ko ç Source Type: research