ArticleCureus2024
Genitopatellar Syndrome With a Novel Variant in the KAT6B Gene: Supporting Spectrum Delineation.
Article in Cureus, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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3 authors.
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Abstract
Genitopatellar syndrome (GPS) and Say-Barber-Biesecker-Young-Simpson syndrome (SBBYSS) are rare genetic disorders linked to mutations in the Lysine Acetyltransferase 6B (KAT6B) gene, affecting histone acetylation regulation and developmental processes. We present a case of an African American infant with classic GPS features and a novel KAT6B gene mutation (c.4066del, p.Glu1356Argfs*23). The patient exhibited skeletal anomalies, neurologic deficits, and genitourinary abnormalities, consistent with GPS. Genetic analysis revealed a de novo heterozygous pathogenic variant, adding to the growing understanding of KAT6B-related disorders. Reviewing recent literature, we found an increased prevalence of reported cases and novel gene variants, supporting the delineation of GPS and SBBYSS. Furthermore, analysis suggests a preference range within the gene associated with GPS phenotypes, challenging the notion of a spectrum of KAT6B-related disorders. As genetic sequencing advances, continued reporting of cases will inform decisions regarding the classification of these disorders.
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