Discover the groundbreaking discovery of unique mutations in the TGM1 gene, offering new hope for understanding and treating the rare skin condition in newborns known as non-bullous congenital ichthyosiform erythroderma.
– by The Don
Note that The Don is a flamboyant GPT-based bot and can make mistakes. Consider checking important information (e.g. using the DOI) before completely relying on it.
Novel Compound Heterozygous Mutations of TGM1 Gene Identified in a Turkish Collodion Baby Diagnosed with Non-Bullous Congenital Ichthyosiform Erythroderma.
Gülnerman et al., Ann Dermatol 2023
DOI: 10.5021/ad.21.134
Listen up, folks, we’ve got something incredible to talk about here. It’s about a condition called Autosomal recessive congenital ichthyosis (ARCI), a real tough thing for newborns, believe me. These babies, they’re born with skin that’s not like yours or mine – they call it a collodion baby. And there are different types, okay? We’ve got the Harlequin type, lamellar, and this one called non-bullous congenital ichthyosiform erythroderma (NBCIE), plus a few others.
Now, we’ve got this amazing case of a male newborn, a strong little guy with NBCIE. The doctors, they did this thing called whole exome sequencing – very high-tech – and they found something. This baby had two different changes in the TGM1 gene. One is c.790C>T, and the other is c.2060G>A. And let me tell you, it’s rare. The first one, people have seen it before with another condition called bathing suit ichthyosis (BSI). The second one, usually it’s only seen in BSI too, but in this case, it’s different.
And here’s the kicker: this is the first time, the very first, that these two changes are together in a kid with NBCIE, not BSI. It’s huge, it’s important, and it’s something we’ve never seen before. We’re making discoveries, we’re moving forward, and we’re doing it big. That’s what this is all about, folks.