Targeted Genetic Testing Uncovers a Novel LRP4 Variant in Cenani-Lenz Syndactyly Syndrome.
Gamze Mutlucan Köseoğlu, Esra Kılıç
✦ AI-curated · Sources linked
Case in brief
A consanguineous family presented with Cenani-Lenz syndactyly syndrome (CLSS), affecting two brothers and their two maternal male cousins. All individuals exhibited bilateral complex syndactyly with absent phalanges and reduced metacarpals. Notably, one child had a horseshoe kidney, while another had right renal agenesis. Genetic testing identified a novel biallelic variant in the LRP4 gene, expanding the understanding of CLSS.
What made this case unusual
The identification of a novel homozygous missense variant in the LRP4 gene, c.3830G>T, which has not been previously described, adds to the genetic landscape of CLSS.
Diagnostic / clinical pearl
Clinicians should consider genetic testing for LRP4 mutations in patients presenting with syndactyly and renal anomalies, as this may reveal novel variants and aid in diagnosis.
Why it matters
This case underscores the importance of targeted genetic testing in rare syndromes, which can uncover new variants and enhance understanding of genetic disorders.