Coffin-Lowry syndrome in a girl with 46,XX,t(X;11)(p22;p15)dn: Identification of RPS6KA3 disruption by whole genome sequencing

Kaori Yamoto; Hirotomo Saitsu; Yasuko Fujisawa; Fumiko Kato; Keiko Matsubara; Maki Fukami; Masayo Kagami; Tsutomu Ogata

doi:10.1002/ccr3.2826

Coffin-Lowry syndrome in a girl with 46,XX,t(X;11)(p22;p15)dn: Identification of RPS6KA3 disruption by whole genome sequencing

Clin Case Rep. 2020 Apr 6;8(6):1076-1080. doi: 10.1002/ccr3.2826. eCollection 2020 Jun.

Authors

Kaori Yamoto¹, Hirotomo Saitsu², Yasuko Fujisawa¹, Fumiko Kato^{1

2

3}, Keiko Matsubara³, Maki Fukami³, Masayo Kagami³, Tsutomu Ogata^{1

3}

Affiliations

¹ Department of Pediatrics Hamamatsu University School of Medicine Hamamatsu Japan.
² Department of Biochemistry Hamamatsu University School of Medicine Hamamatsu Japan.
³ Department of Molecular Endocrinology National Research Institute for Child Health and Development Tokyo Japan.

Abstract

We report a Japanese girl with Coffin-Lowry syndrome phenotype such as hypertelorism, hypodontia, and tapering fingers and 46,XX,t(X;11)(p22;p15)dn. Whole genome sequencing revealed RPS6KA3 disruption by the translocation, and X-inactivation analysis indicated preferential inactivation of the normal X chromosome. The results explain the development of an X-linked disease in this girl.

Keywords: Coffin‐Lowry syndrome; RPS6KA3; translocation; whole genome sequencing.

Publication types

Case Reports