Case Report: A novel variant in fibrillin-2 identified in a congenital contractural arachnodactyly family with phenotypic heterogeneity - Scorecard - MDSpire
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Case Report: A novel variant in fibrillin-2 identified in a congenital contractural arachnodactyly family with phenotypic heterogeneity
Clinical Scorecard: Case Study: Identification of a New Fibrillin-2 Variant in a Family Affected by Congenital Contractural Arachnodactyly with Diverse Phenotypic Expressions
At a Glance
Category
Detail
Condition
Congenital Contractural Arachnodactyly (CCA)
Key Mechanisms
FBN2 gene variants affecting connective tissue protein fibrillin-2.
Target Population
Individuals with CCA, particularly those with phenotypic expressions overlapping with Marfan syndrome.
Care Setting
Genetic counseling and molecular diagnostics.
Key Highlights
CCA is a rare autosomal dominant connective tissue disorder.
A novel heterozygous missense variant in FBN2 was identified.
Diagnosis of CCA is challenging due to phenotypic diversity and overlap with Marfan syndrome.
Genetic screening is critical for accurate diagnosis.
The identified variant was classified as 'likely pathogenic' according to ACMG guidelines.
Guideline-Based Recommendations
Diagnosis
Clinical score of ≥ 7 suggests CCA; score of ≥ 11 makes diagnosis likely.
Management
Genetic counseling for affected families.
Monitoring & Follow-up
Regular assessment for phenotypic manifestations and associated complications.
Risks
Incomplete dominance observed in biallelic FBN2 variants leading to more severe CCA.
Patient & Prescribing Data
Families with multiple affected individuals across generations.
Focus on genetic counseling and management of symptoms.
Clinical Best Practices
Utilize genetic screening for accurate diagnosis of CCA.
Consider phenotypic overlap with Marfan syndrome in clinical assessments.
Engage in multidisciplinary care for management of associated complications.
Chronic tendinopathy is one of the most common reasons patients remain symptomatic after months of physical therapy, activity modification, NSAIDs, or corticosteroid injections.
