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

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...

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Autores principales: Yamoto, Kaori, Saitsu, Hirotomo, Fujisawa, Yasuko, Kato, Fumiko, Matsubara, Keiko, Fukami, Maki, Kagami, Masayo, Ogata, Tsutomu
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2020
Materias:
Case Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7303873/
https://www.ncbi.nlm.nih.gov/pubmed/32577269
http://dx.doi.org/10.1002/ccr3.2826
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author Yamoto, Kaori
Saitsu, Hirotomo
Fujisawa, Yasuko
Kato, Fumiko
Matsubara, Keiko
Fukami, Maki
Kagami, Masayo
Ogata, Tsutomu
author_facet Yamoto, Kaori
Saitsu, Hirotomo
Fujisawa, Yasuko
Kato, Fumiko
Matsubara, Keiko
Fukami, Maki
Kagami, Masayo
Ogata, Tsutomu
author_sort Yamoto, Kaori
collection PubMed
description 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.
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spelling pubmed-73038732020-06-22 Coffin‐Lowry syndrome in a girl with 46,XX,t(X;11)(p22;p15)dn: Identification of RPS6KA3 disruption by whole genome sequencing Yamoto, Kaori Saitsu, Hirotomo Fujisawa, Yasuko Kato, Fumiko Matsubara, Keiko Fukami, Maki Kagami, Masayo Ogata, Tsutomu Clin Case Rep Case Reports 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. John Wiley and Sons Inc. 2020-04-06 /pmc/articles/PMC7303873/ /pubmed/32577269 http://dx.doi.org/10.1002/ccr3.2826 Text en © 2020 The Authors. Clinical Case Reports published by John Wiley & Sons Ltd. This is an open access article under the terms of the http://creativecommons.org/licenses/by/4.0/ License, which permits use, distribution and reproduction in any medium, provided the original work is properly cited.
spellingShingle Case Reports
Yamoto, Kaori
Saitsu, Hirotomo
Fujisawa, Yasuko
Kato, Fumiko
Matsubara, Keiko
Fukami, Maki
Kagami, Masayo
Ogata, Tsutomu
Coffin‐Lowry syndrome in a girl with 46,XX,t(X;11)(p22;p15)dn: Identification of RPS6KA3 disruption by whole genome sequencing
title Coffin‐Lowry syndrome in a girl with 46,XX,t(X;11)(p22;p15)dn: Identification of RPS6KA3 disruption by whole genome sequencing
title_full Coffin‐Lowry syndrome in a girl with 46,XX,t(X;11)(p22;p15)dn: Identification of RPS6KA3 disruption by whole genome sequencing
title_fullStr Coffin‐Lowry syndrome in a girl with 46,XX,t(X;11)(p22;p15)dn: Identification of RPS6KA3 disruption by whole genome sequencing
title_full_unstemmed Coffin‐Lowry syndrome in a girl with 46,XX,t(X;11)(p22;p15)dn: Identification of RPS6KA3 disruption by whole genome sequencing
title_short Coffin‐Lowry syndrome in a girl with 46,XX,t(X;11)(p22;p15)dn: Identification of RPS6KA3 disruption by whole genome sequencing
title_sort coffin‐lowry syndrome in a girl with 46,xx,t(x;11)(p22;p15)dn: identification of rps6ka3 disruption by whole genome sequencing
topic Case Reports
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7303873/
https://www.ncbi.nlm.nih.gov/pubmed/32577269
http://dx.doi.org/10.1002/ccr3.2826
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