ECEL1 mutation in distal arthrogryposis type 5D: A case report.

Area of Science:

• Genetics
• Developmental Biology
• Medical Diagnostics

Background:

• Arthrogryposis multiplex congenita (AMC) is characterized by joint contractures.
• Distal arthrogryposis type 5D (DA5D) is a rare, autosomal recessive form of AMC impacting distal extremities.
• Symptoms include knee contractures, camptodactyly, and scoliosis.

Purpose of the Study:

• To report a case of fetal distal arthrogryposis type 5D (DA5D).
• To identify the genetic cause of DA5D in a fetus using advanced sequencing techniques.
• To contribute to the understanding of ECEL1 gene mutations in fetal joint disorders.

Main Methods:

• Prenatal screening and genetic counseling were performed.
• Amniocentesis and chromosomal analysis ruled out common aneuploidies.
• Whole exome sequencing (WES) identified a novel ECEL1 gene variant (c.2151 + 2T > A).

Main Results:

• Fetal ultrasound revealed limited limb movement, suggestive of fetal akinesia deformation sequence (FADS).
• WES confirmed DA5D due to an autosomal recessive ECEL1 5' splice site variant.
• Autopsy confirmed the DA5D diagnosis post-pregnancy termination.

Conclusions:

• This case highlights the utility of WES in diagnosing rare fetal joint disorders.
• The identified ECEL1 variant expands the known mutational spectrum for DA5D.
• Findings can aid in prenatal diagnosis, parental counseling, and clinical decision-making for similar cases.