H01794 | |
H number | H01794 |
Name | Genitopatellar syndrome |
Description | Genitopatellar syndrome (GPS) is a rare disorder in which patellar aplasia or hypoplasia is associated with external genital and renal anomalies, congenital flexion deformities of the limbs, distinctive facial features, corpus callosum agenesis, and severe intellectual disability. GPS and Say-Barber-Biesecker-Young-Simpson syndrome (SBBYSS) [DS:H01793] are clinically similar disorders with some overlapping features. They were found to be caused by de novo truncating sequence variants in the KAT6B (histone acetyltransferase) gene, strongly suggesting that they are allelic disorders. In GPS, the overall clinical picture tends to be more severe than in SBBYSS. Features present only in GPS are contractures, anomalies of the spine, ribs and pelvis, renal cysts, hydronephrosis, and agenesis of the corpus callosum. Thyroid abnormalities have been reported in rare cases. |
Category | Congenital malformation |
Network | - |
Gene | KAT6B [HSA:23522] [KO:K11306] |
Pathogen | - |
Env factor | - |
Carcinogen | - |
Drug | - |
Comment | - |
Other DBs | ICD-11: LD2F.1Y ICD-10: Q87.8 OMIM: 606170 |
Reference | PMID:22265017 AUTHORS Simpson MA, Deshpande C, Dafou D, Vissers LE, Woollard WJ, Holder SE, Gillessen-Kaesbach G, Derks R, White SM, Cohen-Snuijf R, Kant SG, Hoefsloot LH, Reardon W, Brunner HG, Bongers EM, Trembath RC TITLE De novo mutations of the gene encoding the histone acetyltransferase KAT6B cause Genitopatellar syndrome. JOURNAL Am J Hum Genet 90:290-4 (2012) DOI:10.1016/j.ajhg.2011.11.024 PMID:27452416 AUTHORS Radvanszky J, Hyblova M, Durovcikova D, Hikkelova M, Fiedler E, Kadasi L, Turna J, Minarik G, Szemes T TITLE Complex phenotypes blur conventional borders between Say-Barber-Biesecker-Young-Simpson syndrome and genitopatellar syndrome. JOURNAL Clin Genet 91:339-343 (2017) DOI:10.1111/cge.12840 PMID:25424711 AUTHORS Gannon T, Perveen R, Schlecht H, Ramsden S, Anderson B, Kerr B, Day R, Banka S, Suri M, Berland S, Gabbett M, Ma A, Lyonnet S, Cormier-Daire V, Yilmaz R, Borck G, Wieczorek D, Anderlid BM, Smithson S, Vogt J, Moore-Barton H, Simsek-Kiper PO, Maystadt I, Destree A, Bucher J, Angle B, Mohammed S, Wakeling E, Price S, Singer A, Sznajer Y, Toutain A, Haye D, Newbury-Ecob R, Fradin M, McGaughran J, Tuysuz B, Tein M, Bouman K, Dabir T, Van den Ende J, Luk HM, Pilz DT, Eason J, Davies S, Reardon W, Garavelli L, Zuffardi O, Devriendt K, Armstrong R, Johnson D, Doco-Fenzy M, Bijlsma E, Unger S, Veenstra-Knol HE, Kohlhase J, Lo IF, Smith J, Clayton-Smith J TITLE Further delineation of the KAT6B molecular and phenotypic spectrum. JOURNAL Eur J Hum Genet 23:1165-70 (2015) DOI:10.1038/ejhg.2014.248 PMID:22715153 AUTHORS Campeau PM, Lu JT, Dawson BC, Fokkema IF, Robertson SP, Gibbs RA, Lee BH TITLE The KAT6B-related disorders genitopatellar syndrome and Ohdo/SBBYS syndrome have distinct clinical features reflecting distinct molecular mechanisms. JOURNAL Hum Mutat 33:1520-5 (2012) DOI:10.1002/humu.22141 |