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Case Report

A New Intronic Variant in ECEL1 in Two Patients with Distal Arthrogryposis Type 5D

1
Laboratory of Medical Genetics, Translational Cytogenomics Research Unit, Bambino Gesù Children’s Hospital, IRCCS, 00165 Rome, Italy
2
Pediatric Clinic and Rare Diseases, Brotzu Hospital, 09134 Cagliari, Italy
3
Department of Medical Sciences and Public Health, University of Cagliari, 09124 Cagliari, Italy
*
Author to whom correspondence should be addressed.
Academic Editors: Chih-Hsin Tang and Emanuela Viggiano
Int. J. Mol. Sci. 2021, 22(4), 2106; https://doi.org/10.3390/ijms22042106
Received: 3 December 2020 / Revised: 11 February 2021 / Accepted: 18 February 2021 / Published: 20 February 2021
(This article belongs to the Special Issue Molecular Research in Medical Genetics)
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. View Full-Text
Keywords: ECEL1; c.1507-9G> A; distal arthrogryposis; DA5D; 2q37.1 ECEL1; c.1507-9G>; A; distal arthrogryposis; DA5D; 2q37.1
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MDPI and ACS Style

Alesi, V.; Sessini, F.; Genovese, S.; Calvieri, G.; Sallicandro, E.; Ciocca, L.; Mingoia, M.; Novelli, A.; Moi, P. A New Intronic Variant in ECEL1 in Two Patients with Distal Arthrogryposis Type 5D. Int. J. Mol. Sci. 2021, 22, 2106. https://doi.org/10.3390/ijms22042106

AMA Style

Alesi V, Sessini F, Genovese S, Calvieri G, Sallicandro E, Ciocca L, Mingoia M, Novelli A, Moi P. A New Intronic Variant in ECEL1 in Two Patients with Distal Arthrogryposis Type 5D. International Journal of Molecular Sciences. 2021; 22(4):2106. https://doi.org/10.3390/ijms22042106

Chicago/Turabian Style

Alesi, Viola; Sessini, Francesca; Genovese, Silvia; Calvieri, Giusy; Sallicandro, Ester; Ciocca, Laura; Mingoia, Maura; Novelli, Antonio; Moi, Paolo. 2021. "A New Intronic Variant in ECEL1 in Two Patients with Distal Arthrogryposis Type 5D" Int. J. Mol. Sci. 22, no. 4: 2106. https://doi.org/10.3390/ijms22042106

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