AI Article Synopsis
- - Shwachman-Diamond syndrome is a complex disorder that involves both genetic and clinical variation, and this report focuses on a particularly severe case in an infant.
- - The infant was found to have two specific EFL1 gene mutations (c.89A>G and c.2599A>G) that were inherited from each parent, contributing to the severity of the syndrome.
- - Laboratory analyses of cells from the patient indicated that these mutations disrupted the production of functional ribosomes, which hindered protein synthesis and led to the critical health issues observed in this case.
Article Abstract
Shwachman-Diamond syndrome represents a clinically and genetically heterogeneous disorder. We report on an infant with a very severe, fatal clinical course caused by biallelic EFL1 variants: c.89A>G, p.(His30Arg), and c.2599A>G, p.(Asn867Asp). Functional analysis of patient-derived B-lymphoblastoid and SV40-transformed fibroblast cell lines suggests that the compound heterozygous EFL1 variants impaired mature ribosome formation leading to compromised protein synthesis, ultimately resulting in a severe form of Shwachman-Diamond syndrome.
Download full-text PDF |
Source |
|---|---|
| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC11637716 | PMC |
| http://dx.doi.org/10.1111/bjh.19793 | DOI Listing |
Publication Analysis
Top Keywords
shwachman-diamond syndrome
12
efl1 variants
12
biallelic efl1
8
fatal clinical
8
clinical course
8
syndrome biallelic
4
variants complex
4
complex fatal
4
course early
4
early infancy
4
Similar Publications
Want AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!