AI Article Synopsis
- Distal Arthrogryposis type 5D (DA5D) is a genetic condition marked by joint contractures, short stature, and various physical traits, inherited in an autosomal recessive pattern linked to mutations in the ECEL1 gene.
- Researchers reported two Sardinian patients with a new homozygous variant in ECEL1 that may disrupt mRNA splicing, potentially leading to the condition.
- This study adds to the understanding of DA5D by documenting this rare variant and reviewing known mutations in the ECEL1 gene, enhancing the database of genetic causes.
Article Abstract
Distal Arthrogryposis type 5D (DA5D) is characterized by congenital contractures involving the distal joints, short stature, scoliosis, ptosis, astigmatism, and dysmorphic features. It is inherited in an autosomal recessive manner, and it is a result of homozygous or compound heterozygous variants in the ECEL1 gene. Here, we report two patients of Sardinian origin harboring a new intronic homozygous variant in ECEL1 (c.1507-9G>A), which was predicted to affect mRNA splicing by activating a cryptic acceptor site. The frequency of the variant is very low in the general human population, and its presence in our families can be attributed to a founder effect. This study provides an updated review of the known causative mutations of the ECEL1 gene, enriching the allelic spectrum to include the noncoding sequence.
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| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7924324 | PMC |
| http://dx.doi.org/10.3390/ijms22042106 | DOI Listing |
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