Identification of a De Novo Heterozygous Frameshift Variant in FMR1 in a Female With Fragile X Syndrome
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View abstract on PubMed
Summary
This summary is machine-generated.A rare FMR1 gene variant caused Fragile X Syndrome (FXS) in a female patient. This case highlights the importance of considering point variants in FMR1 for diagnosing FXS in females.
Area Of Science
- Genetics
- Neurodevelopmental Disorders
- Molecular Biology
Background
- Fragile X Syndrome (FXS) is typically caused by CGG repeat expansions in the FMR1 gene.
- FXS in females is often less severe or presents differently than in males.
- Point mutations in FMR1 are a less common but recognized cause of FXS.
Observation
- A 28-year-old female presented with global developmental delay, mild intellectual disability, and distinct physical features.
- Whole-exome sequencing identified a de novo heterozygous variant (c.1061_1062delAA) in the FMR1 gene.
- Standard FMR1 CGG analysis and broader gene panels did not reveal the cause initially.
Findings
- The identified FMR1 variant, p.(Lys354Thrfs*15), resulted in Fragile X Syndrome.
- This represents the second reported case of FXS in a female due to a heterozygous point variant in FMR1.
- Clinical features included macrocephaly, coarse facial features, developmental delay, and other dysmorphic characteristics.
Implications
- This case expands the known spectrum of FMR1 mutations causing FXS.
- It underscores the necessity of considering whole-exome sequencing and FMR1 point mutation analysis in the diagnostic workup of females with unexplained developmental delay and FXS-like features.
- Further research into genotype-phenotype correlations for FMR1 point variants is warranted.
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