title: A Say-Barber-Biesecker-Young-Simpson variant of Ohdo syndrome with a KAT6B 10-base pair palindromic duplication: A recurrent mutation causing a severe phenotype mixed with genitopatellar syndrome.
abstract: 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.
authors.affiliation: Division of Clinical Genetics, Multidisciplinary Medical Center, Kanazawa Medical University Hospital, Ishikawa, Japan.
authors.forename: Yo
authors.initials: Y
authors.lastname: Niida
authors.affiliation: Department of Pediatrics, Institute of Medical, Pharmaceutical and Health Sciences, School of Medicine, Kanazawa University, Ishikawa, Japan.
authors.forename: Yusuke
authors.initials: Y
authors.lastname: Mitani
authors.affiliation: Department of Pediatrics, Institute of Medical, Pharmaceutical and Health Sciences, School of Medicine, Kanazawa University, Ishikawa, Japan.
authors.forename: Mondo
authors.initials: M
authors.lastname: Kuroda
authors.affiliation: Department of Pediatrics, Institute of Medical, Pharmaceutical and Health Sciences, School of Medicine, Kanazawa University, Ishikawa, Japan.
authors.forename: Ayano
authors.initials: A
authors.lastname: Yokoi
authors.affiliation: Department of Pediatrics, Institute of Medical, Pharmaceutical and Health Sciences, School of Medicine, Kanazawa University, Ishikawa, Japan.
authors.forename: Hiroyasu
authors.initials: H
authors.lastname: Nakagawa
authors.affiliation: Department of Pediatrics, Institute of Medical, Pharmaceutical and Health Sciences, School of Medicine, Kanazawa University, Ishikawa, Japan.
authors.forename: Akiko
authors.initials: A
authors.lastname: Kato
mesh_terms: D000483:Alleles; D016569:Blepharophimosis / Q000175:diagnosis* / Q000235:genetics*; D003409:Congenital Hypothyroidism / Q000175:diagnosis* / Q000235:genetics*; D019465:Craniofacial Abnormalities / Q000175:diagnosis; D004252:DNA Mutational Analysis; D003937:Diagnosis, Differential; D005091:Exons; D019066:Facies; D020440:Gene Duplication; D056726:Genetic Association Studies; D006330:Heart Defects, Congenital / Q000175:diagnosis* / Q000235:genetics*; D051548:Histone Acetyltransferases / Q000235:genetics*; D006801:Humans; D007231:Infant, Newborn; D008607:Intellectual Disability / Q000175:diagnosis* / Q000235:genetics*; D055029:Inverted Repeat Sequences; D007593:Joint Instability / Q000175:diagnosis* / Q000235:genetics*; D007668:Kidney / Q000002:abnormalities; D008297:Male; D009154:Mutation; D010329:Patella / Q000002:abnormalities; D010641:Phenotype; D011596:Psychomotor Disorders / Q000175:diagnosis; D011859:Radiography; D012611:Scrotum / Q000002:abnormalities; D016216:Ultrasonography, Prenatal; D014564:Urogenital Abnormalities / Q000175:diagnosis
chemical_list: D051548:Histone Acetyltransferases; C487137:KAT6B protein, human
keywords: Genitopatellar syndrome; Genotype-phenotype correlation; KAT6B; Say-Barber-Biesecker-Young-Simpson variant of Ohdo syndrome (SBBYSS)