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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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[Clinical and genetic analysis of a pedigree affected with Distal arthrogryposis type 5D due to compound heterozygous variants of ECEL1 gene].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
March 2025
Department of Rehabilitation Medicine, Children's Hospital Affiliated to Zhengzhou University, Henan Children's Hospital Zhengzhou Children's Hospital, Zhengzhou, Henan 450018, China.
Objective: To explore the clinical phenotypes and genetic characteristics of a pedigree with Distal arthrogryposis type 5D (DA5D) caused by compound heterozygous variants in the ECEL1 gene.
Methods: A child (proband) diagnosed with DA5D and his family members (proband's parents and sister) who was admitted to the Department of Rehabilitation Medicine of Henan Children's Hospital in July 2022 due to "multiplex distal arthrogryposis" were enrolled into this study. Clinical data of the proband were collected and peripheral blood samples were obtained from the proband and members of his family about 3 mL.
ECEL1 mutation in distal arthrogryposis type 5D: A case report.
Eur J Obstet Gynecol Reprod Biol
February 2025
Department of Neonatology, All India Institute of Medical Sciences, Bhubaneswar, Odisha 751019, India. Electronic address:
Background: Arthrogryposis multiplex congenita involves joint contractures across various body parts. Distal arthrogryposis type 5D (DA5D) is a rare, autosomal recessive subtype affecting distal extremities, with symptoms like knee extension contractures, camptodactyly, overriding fingers, ulnar wrist deviation, and scoliosis.
Case: A 24-year-old pregnant woman with a second-degree relative partner had a fetus showing increased nuchal translucency (3.
ECEL1 related distal arthrogryposis 5D in an Indian cohort-Report of recognizable musculoskeletal phenotype and a possible founder variant.
Am J Med Genet A
August 2024
Division of Genetics, Department of Pediatrics, All India Institute of Medical Sciences, New Delhi, India.
Distal arthrogryposis type 5D (DA5D) is clinically characterized by knee extension contractures, distal joint contractures, clubfoot, micrognathia, ptosis, and scoliosis. We report nine affected individuals from eight unrelated Indian families with DA5D. Although the overall musculoskeletal phenotype is not very distinct from other distal arthrogryposis, the presence of fixed knee extension contractures with or without scoliosis could be an important early pointer to DA5D.
View Article and Find Full Text PDFA novel compound heterozygous variant of induced joint dysfunction and cartilage degradation: a case report and literature review.
Front Neurol
January 2024
Key Laboratory of Birth Defects and Related Diseases of Women and Children of MOE, Department of Pediatrics, West China Second University Hospital, Sichuan University, Chengdu, China.
Article Synopsis
- Distal arthrogryposis type 5D (DA5D) is a rare genetic condition that causes congenital joint contractures in the limbs, inherited in an autosomal recessive manner and linked to specific gene mutations.
- A case study of a 6-month-old male infant revealed significant bilateral knee contractures and ptosis, with whole-exome sequencing identifying two novel compound heterozygous mutations related to the condition.
- This case emphasizes the importance of molecular genetic screening for diagnosing rare disorders and expands the understanding of genetic mutations involved in DA5D.
ECEL1 novel mutation in arthrogryposis type 5D: A molecular dynamic simulation study.
Mol Genet Genomic Med
June 2023
Industrial Biotechnology Research Group, Institute of Biotechnology, Ferdowsi University of Mashhad, Mashhad, Iran.
Article Synopsis
- ECEL1 is linked to an autosomal recessive form of distal arthrogryposis, and the study examined a novel mutation (c.535A>G) identified in a family with affected boys and fetus through prenatal testing.
- Researchers conducted whole-exome sequencing and molecular dynamic simulations to analyze the differences between the normal and mutated ECEL1 proteins, validating the mutation presence in the affected family members.
- The study found significant structural differences in the ECEL1 protein due to the mutation, particularly its inability to bind zinc ions, which contributes to the neurodegenerative disorder, suggesting the findings could enhance our understanding of the mutation's effects on the protein.