scenario3.md

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Scenario 3 - Genetic Analysis Case Study on FN1 gene

Scenario 3: Genetic Analysis Case Study on FN1 gene

A Patient with Spondylometaphyseal Dysplasia and Corner Fractures

A patient affected by spondylometaphyseal dysplasia with corner fractures, a rare form of AD osteocondrodysplasia of unknown genetic origin, underwent Whole Exome Sequencing (WES) analysis. This disclosed a de novo likely pathogenic mutation in the FN1 gene, a gene previously associated with glomerulopathy with fibronectin deposits, a rare kidney disease (KD) not present in the patient.

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Research Questions

Question 1: Mutation Prevalence

Are there any other individuals with the same mutation or allelic variant?

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Question 2: Phenotype

What is their phenotype?

WORK IN PROGRESS

Question 3: Genotype-Phenotype Correlation

Is it possible to establish any genotype-phenotype correlation? WORK IN PROGRESS

Question 4: Variant Frequency in Populations

What is the variant frequency across different populations?

WORK IN PROGRESS