Coffin‐Lowry syndrome in a girl with 46, XX, t(X;11)(p22;p15)dn: Identification of RPS6KA3 disruption by whole genome sequencing. Issue 6 (6th April 2020)

• Record Type: Journal Article
• Authors: Yamoto, Kaori; Saitsu, Hirotomo; Fujisawa, Yasuko; Kato, Fumiko; Matsubara, Keiko; Fukami, Maki; Kagami, Masayo; Ogata, Tsutomu
• Is Part Of: Clinical case reports. Volume 8:Issue 6(2020)
• Page Start: 1076
• Page End: 1080
• Publication Date: 2020-04-06
• Subjects: Coffin‐Lowry syndrome -- RPS6KA3 -- translocation -- whole genome sequencing; Medicine -- Periodicals; 616.09
• DOI: 10.1002/ccr3.2826
• Languages: English
• ISSNs: 2050-0904

Abstract

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. 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.