A New Intronic Variant in ECEL1 in Two Patients with Distal Arthrogryposis Type 5D
| Autor: | Francesca Sessini, Maura Mingoia, Paolo Moi, Ester Sallicandro, Viola Alesi, Laura Ciocca, Silvia Genovese, Antonio Novelli, Giusy Calvieri |
|---|---|
| Jazyk: | angličtina |
| Rok vydání: | 2021 |
| Předmět: |
0301 basic medicine
DA5D Population Case Report 030105 genetics & heredity Biology Compound heterozygosity Short stature Catalysis Inorganic Chemistry lcsh:Chemistry 03 medical and health sciences Ptosis 2q37.1 medicine distal arthrogryposis Physical and Theoretical Chemistry Allele education Molecular Biology lcsh:QH301-705.5 Spectroscopy Sequence (medicine) Genetics education.field_of_study c.1507-9G> Organic Chemistry General Medicine Computer Science Applications 030104 developmental biology c.1507-9G>A lcsh:Biology (General) lcsh:QD1-999 RNA splicing ECEL1 medicine.symptom Founder effect |
| Zdroj: | International Journal of Molecular Sciences, Vol 22, Iss 2106, p 2106 (2021) International Journal of Molecular Sciences |
| ISSN: | 1661-6596 1422-0067 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
| Externí odkaz: |
|