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
| Autor: | Yusuke Mitani, Hiroyasu Nakagawa, Mondo Kuroda, Ayano Yokoi, Akiko Kato, Yo Niida |
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| Rok vydání: | 2017 |
| Předmět: |
0301 basic medicine
Genetics Embryology Palindrome General Medicine 030105 genetics & heredity Biology medicine.disease 03 medical and health sciences Pediatrics Perinatology and Child Health Mutation (genetic algorithm) Gene duplication medicine Laryngomalacia Genitopatellar syndrome Recurrent mutation OHDO SYNDROME Allele Developmental Biology |
| Zdroj: | Congenital Anomalies. 57:86-88 |
| ISSN: | 0914-3505 |
| DOI: | 10.1111/cga.12196 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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