This mutation activates a cryptic splice donor site, which is responsible for the excision of the C-terminal part of exon 11, including the cleavage site of the zinc metalloprotease ZMPSTE24, an important enzyme in lamin A processing.
Hutchinson–Gilford progeria syndrome (HGPS) is an important model disease for premature ageing. Affected children appear healthy at birth, but develop the first symptoms during their first year of life. They die at an average age of 13 years, mostly because of myocardial infarction or stroke.
Neonatal progeroid syndrome is a rare genetic syndrome characterized by an aged appearance at birth. Other signs and symptoms include intrauterine growth restriction, feeding difficulties, distinctive craniofacial features, hypotonia, developmental delay and mild to severe intellectual disability.
Progeria is a specific type of progeroid syndrome, also known as Hutchinson-Gilford syndrome. Progeroid syndromes are a group of diseases that causes individuals to age faster than usual, leading to them appearing older than they are. Patients born with progeria typically live to an age of mid-teens to early twenties.
network.punditarena.com - 2022 DISCLAIMER: All models on www.xxxcrowlimg.com adult site are 18 years or older. network.punditarena.com has a zero-tolerance policy against ILLEGAL pornography. All galleries and links are provided by 3rd parties. We have no control over the content of these pages. We take no responsibility for the content on any website which we link to, please use your own discretion while surfing the porn links.