Genitopatellar syndrome: the first reported case in Japan

Satomi Okano; Akie Miyamoto; Ikue Fukuda; Hajime Tanaka; Kenichiro Hata; Tadashi Kaname; Yoichi Matsubara; Yoshio Makita

doi:10.1038/s41439-018-0010-1

Genitopatellar syndrome: the first reported case in Japan

Hum Genome Var. 2018 May 28:5:8. doi: 10.1038/s41439-018-0010-1. eCollection 2018.

Authors

Satomi Okano^{1

2}, Akie Miyamoto², Ikue Fukuda², Hajime Tanaka², Kenichiro Hata³, Tadashi Kaname³, Yoichi Matsubara³, Yoshio Makita⁴

Affiliations

¹ 1Department of Pediatrics, Asahikawa Medical University, Asahikawa, Japan.
² Department of Pediatrics, Hokkaido Asahikawa Habilitation Center for Disabled Children, Asahikawa, Japan.
³ 3National Institute of Child Health and Development, Tokyo, Japan.
⁴ 4Education Center, Asahikawa Medical University, Asahikawa, Japan.

Abstract

Genitopatellar syndrome (GPS) is mainly characterized by an absence of patellae, congenital flexion contractures of the lower limbs, psychomotor retardation, and anomalies of the external genitalia and kidneys. We report an 18-year-old female with a novel heterozygous truncating mutation in exon 17 of the KAT6B gene [MC_000010.11:c.3603_3606 del, p.Arg1201fs]. This is the first report of typical GPS in a Japanese individual. The details of our findings may contribute to elucidating the mechanism underlying GPS-specific clinical features.

Publication types

Case Reports