Genitopatellar Syndrome Secondary to De Novo KAT6B Mutation: The First Genetically Confirmed Case in South Korea
10.3349/ymj.2019.60.4.395
- Author:
Byuh Ree KIM
1
;
Jeong Ho HAN
;
Jeong Eun SHIN
;
Min Soo PARK
;
Kook In PARK
;
Ran NAMGUNG
;
Hyun Joo LEE
;
Jin Sung LEE
;
Ho Sun EUN
Author Information
1. Department of Pediatrics, Severance Children's Hospital, Yonsei University College of Medicine, Seoul, Korea.
- Publication Type:Case Report
- Keywords:
Genitopatellar syndrome;
KAT6B gene
- MeSH:
Contracture;
Exome;
Female;
Humans;
Infant;
Korea;
Lower Extremity
- From:Yonsei Medical Journal
2019;60(4):395-398
- CountryRepublic of Korea
- Language:English
-
Abstract:
Genitopatellar syndrome (GPS) is a rare disorder characterized by patellar hypoplasia, flexion contractures of the lower limbs, psychomotor retardation and genital and renal anomalies. We report the case of a female infant diagnosed with GPS to a KAT6B gene mutation, which was identified using whole exome sequencing.
