Genitopatellar syndrome (GPS) is a rare disorder characterized by patellar hypoplasia, flexion contractures of the lower limbs, psychomotor retardation and genital and renal anomalies. We report the case of a female infant diagnosed with GPS to a gene mutation, which was identified using whole exome sequencing.
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| http://dx.doi.org/10.3349/ymj.2019.60.4.395 | DOI Listing |
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Genitopatellar Syndrome With a Novel Variant in the KAT6B Gene: Supporting Spectrum Delineation.
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September 2024
Pediatric Neurology, The University of Toledo, Toledo, USA.
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.
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Mol Genet Genomic Med
December 2023
Department of Pediatrics, Endocrinology, Diabetology and Metabolic Diseases, Medical University of Wroclaw, Wroclaw, Poland.
Background: Say-Barber-Biesecker-Young-Simpson (SBBYSS) variant of Ohdo syndrome is a rare, autosomal dominant and clinically heterogenous disorder, caused by pathogenic variants in the KAT6B gene located on chromosome 10q22.2. KAT6B encodes a highly conserved histone acetyltransferase belonging to the MYST family.
View Article and Find Full Text PDFDelineation of a Phenotype Caused by a Missense Variant Not Resembling Say-Barber-Biesecker-Young-Simpson and Genitopatellar Syndromes.
Mol Syndromol
May 2022
Division of Medical Genetics, Kanagawa Children's Medical Center, Yokohama, Japan.
Say-Barber-Biesecker-Young-Simpson syndrome (SBBYSS) and genitopatellar syndrome (GPS) are caused by variants of lysine acetyltransferase 6B (). These variants tend to occur in the terminal exons of . Here, we report a patient with global developmental delay, intellectual disability, autistic behavior, muscular hypotonia, facial dysmorphism, and seizures caused by a novel missense variant in exon 7 of .
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Department of Human Genetics, David Geffen School of Medicine, UCLA, Los Angeles, California, USA.
The phenotypic variability associated with pathogenic variants in Lysine Acetyltransferase 6B (KAT6B, a.k.a.
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