Genitopatellar syndrome is a newly described condition, subject of a single literature report to date. The condition comprises absent patellae, genital and renal malformations, joint dislocation, and mental retardation. Recurrence has been recorded in two kindreds, consistent with autosomal recessive inheritance.
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Loss of KAT6B causes premature ossification and promotes osteoblast differentiation during development.
Dev Biol
January 2025
The Walter and Eliza Hall Institute of Medical Research, Parkville, Victoria, 3052, Australia; Department of Medical Biology, The University of Melbourne, Parkville, Victoria, 3052, Australia. Electronic address:
The MYST family histone acetyltransferase gene, KAT6B (MYST4, MORF, QKF) is mutated in two distinct human congenital disorders characterised by intellectual disability, facial dysmorphogenesis and skeletal abnormalities; the Say-Barber-Biesecker-Young-Simpson variant of Ohdo syndrome and Genitopatellar syndrome. Despite its requirement in normal skeletal development, the cellular and transcriptional effects of KAT6B in skeletogenesis have not been thoroughly studied. Here, we show that germline deletion of the Kat6b gene in mice causes premature ossification in vivo, resulting in shortened craniofacial elements and increased bone density, as well as shortened tibias with an expanded pre-hypertrophic layer, as compared to wild type controls.
View Article and Find Full Text PDFGenitopatellar Syndrome With a Novel Variant in the KAT6B Gene: Supporting Spectrum Delineation.
Cureus
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.
View Article and Find Full Text PDFClinical heterogeneity of polish patients with KAT6B-related disorder.
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 .
View Article and Find Full Text PDFNovel variants in KAT6B spectrum of disorders expand our knowledge of clinical manifestations and molecular mechanisms.
Mol Genet Genomic Med
October 2021
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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