Customize Consent Preferences

We use cookies to help you navigate efficiently and perform certain functions. You will find detailed information about all cookies under each consent category below.

The cookies that are categorized as "Necessary" are stored on your browser as they are essential for enabling the basic functionalities of the site. ... 

Always Active

Necessary cookies are required to enable the basic features of this site, such as providing secure log-in or adjusting your consent preferences. These cookies do not store any personally identifiable data.

No cookies to display.

Functional cookies help perform certain functionalities like sharing the content of the website on social media platforms, collecting feedback, and other third-party features.

No cookies to display.

Analytical cookies are used to understand how visitors interact with the website. These cookies help provide information on metrics such as the number of visitors, bounce rate, traffic source, etc.

No cookies to display.

Performance cookies are used to understand and analyze the key performance indexes of the website which helps in delivering a better user experience for the visitors.

No cookies to display.

Advertisement cookies are used to provide visitors with customized advertisements based on the pages you visited previously and to analyze the effectiveness of the ad campaigns.

No cookies to display.

52.15.91.151
dgid:
enl:
npi:0
-Advertisement-
-Advertisement-
Smith-Lemli-Opitz Syndrome

73-year-old patient becomes the oldest documented case of Smith-Lemli-Opitz syndrome

Posted on

A 73-year-old woman with amnesia and movement disorders, under neurology care for three years, was referred for genetic analysis after presenting with partial syndactyly, a wide forehead, and a triangular face. Despite no significant dysmorphic findings, her symptoms prompted whole-exome sequencing (WES) to identify the genetic cause.

The WES analysis uncovered a novel homozygous missense mutation, c.1295A>G (p.Tyr432Cys), in the DHCR7 gene. This particular variant has been previously reported in 9 patients, but this case is notable as it is the first documented instance of biallelic c.1295A>G (p.Tyr432Cys) in the literature. The patient also exhibited mild intellectual impairment, recurrent hip dislocation, and subtle dysmorphic features.

This case is significant as it represents the oldest known patient with SLOS, highlighting the potential for milder manifestations of the syndrome.

Reference
Yılmaz M, Bebek O, Turkyilmaz A. Smith-Lemli-Opitz Syndrome with Biallelic c.1295A>G (p.Tyr432Cys) Variant in the DHCR7 Gene in a 73-Year-Old Woman: Report of the Oldest Patient. Mol Syndromol. 2024;15(4):317-323. doi: 10.1159/000536343. Epub 2024 Feb 23. PMID: 39119449; PMCID: PMC11305663.

-Advertisement-
-Advertisement-
-Advertisement-
-Advertisement-
-Advertisement-
-Advertisement-