The Say-Barber-Biesecker-Young-Simpson variant of Ohdo syndrome (SBBYSS) (MIM# 603736) and genitopatellar syndrome (GPS) (MIM#606170) are allelic diseases caused by KAT6B mutation. Genotype-phenotype correlation is assumed, but a few patients manifest overlapping features of both syndromes. Here we report the case of a boy with SBBYSS. He had a KAT6B mutation previously reported in typical SBBYSS, but he also manifested severe developmental delay, as well as genital features and laryngomalacia requiring tracheostomy that conformed to GPS.
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Genitopatellar 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 PDFDe novo KAT6B mutation causes Say-Barber-Biesecker-Young-Simpson variant of Ohdo syndrome in an Iranian boy: a case report.
J Med Case Rep
January 2024
Medical Genetics and Pathology, Ardabil University of Medical Sciences, Ardabil, Iran.
Background: Say-Barber-Biesecker-Young-Simpson (SBBYS) (OMIM #603736, Ohdo syndrome variant) is a rare type of severe blepharophimosis intellectual disability syndrome, which is generally characterized by a global developmental delay, distinctive facial features, and intellectual disability with multiple congenital anomalies, including skeletal involvement, missing, or underdeveloped kneecaps, and genital anomalies, in affected males. It has been shown that mutations in the KAT6B gene, which is a lysine acetyltransferase-encoding gene, have been associated with SBBYS syndrome. All the known variants are dominant de novo mutations that result in protein truncation.
View Article and Find Full Text PDFClinical heterogeneity of polish patients with KAT6B-related disorder.
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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 PDFNovel variant in the KAT6B gene associated with Say Barber Biesecker Young Simpson.
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National Center of Medical Genetics, National Administration of Laboratories and Institutes of Health, Ministry of Health, Ciudad Autónomade Buenos Aires, Argentina.
[Diagnosis of a child with Say-Barber-Biesecker-Young-Simpson syndrome due to variant of KAT6B gene].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
December 2022
Department of Rehabilitative Medicine, Anhui Provincial Children's Hospital, Hefei, Anhui 230051, China.
Objective: To analyze the genotype and clinical phenotype of a 3-month-old female infant featuring unresponsiveness.
Methods: The infant was subjected to genetic testing, and her clinical features were compared with syndromes associated with variants of the candidate gene.
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