De novo 2q36.3q37.1 deletion encompassing TRIP12 and NPPC yields distinct phenotypes

We report a patient with developmental delay, extremely short stature, small hands, dysmorphic facial features, hearing loss, and epilepsy carrying a de novo 2.76-Mb deletion of 2q36.3q37.1, including TRIP12 and NPPC. TRIP12 haploinsufficiency causes developmental delay with isolated dysmorphic faci...

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Autores principales: Kondo, Yuto, Aoyama, Kohei, Suzuki, Hisato, Hattori, Ayako, Hori, Ikumi, Ito, Koichi, Yoshida, Aya, Koroki, Mari, Ueda, Kentaro, Kosaki, Kenjiro, Saitoh, Shinji
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2020
Materias:
Data Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7261772/
https://www.ncbi.nlm.nih.gov/pubmed/32528716
http://dx.doi.org/10.1038/s41439-020-0107-1
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author Kondo, Yuto
Aoyama, Kohei
Suzuki, Hisato
Hattori, Ayako
Hori, Ikumi
Ito, Koichi
Yoshida, Aya
Koroki, Mari
Ueda, Kentaro
Kosaki, Kenjiro
Saitoh, Shinji
author_facet Kondo, Yuto
Aoyama, Kohei
Suzuki, Hisato
Hattori, Ayako
Hori, Ikumi
Ito, Koichi
Yoshida, Aya
Koroki, Mari
Ueda, Kentaro
Kosaki, Kenjiro
Saitoh, Shinji
author_sort Kondo, Yuto
collection PubMed
description We report a patient with developmental delay, extremely short stature, small hands, dysmorphic facial features, hearing loss, and epilepsy carrying a de novo 2.76-Mb deletion of 2q36.3q37.1, including TRIP12 and NPPC. TRIP12 haploinsufficiency causes developmental delay with isolated dysmorphic facial features, whereas NPPC haploinsufficiency causes short stature and small hands. This is the first report of a unique phenotype, which is secondary to a microdeletion encompassing TRIP12 and NPPC.
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spelling pubmed-72617722020-06-10 De novo 2q36.3q37.1 deletion encompassing TRIP12 and NPPC yields distinct phenotypes Kondo, Yuto Aoyama, Kohei Suzuki, Hisato Hattori, Ayako Hori, Ikumi Ito, Koichi Yoshida, Aya Koroki, Mari Ueda, Kentaro Kosaki, Kenjiro Saitoh, Shinji Hum Genome Var Data Report We report a patient with developmental delay, extremely short stature, small hands, dysmorphic facial features, hearing loss, and epilepsy carrying a de novo 2.76-Mb deletion of 2q36.3q37.1, including TRIP12 and NPPC. TRIP12 haploinsufficiency causes developmental delay with isolated dysmorphic facial features, whereas NPPC haploinsufficiency causes short stature and small hands. This is the first report of a unique phenotype, which is secondary to a microdeletion encompassing TRIP12 and NPPC. Nature Publishing Group UK 2020-06-01 /pmc/articles/PMC7261772/ /pubmed/32528716 http://dx.doi.org/10.1038/s41439-020-0107-1 Text en © The Author(s) 2020 Open Access This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The images or other third party material in this article are included in the article’s Creative Commons license, unless indicated otherwise in a credit line to the material. If material is not included in the article’s Creative Commons license and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this license, visit http://creativecommons.org/licenses/by/4.0/.
spellingShingle Data Report
Kondo, Yuto
Aoyama, Kohei
Suzuki, Hisato
Hattori, Ayako
Hori, Ikumi
Ito, Koichi
Yoshida, Aya
Koroki, Mari
Ueda, Kentaro
Kosaki, Kenjiro
Saitoh, Shinji
De novo 2q36.3q37.1 deletion encompassing TRIP12 and NPPC yields distinct phenotypes
title De novo 2q36.3q37.1 deletion encompassing TRIP12 and NPPC yields distinct phenotypes
title_full De novo 2q36.3q37.1 deletion encompassing TRIP12 and NPPC yields distinct phenotypes
title_fullStr De novo 2q36.3q37.1 deletion encompassing TRIP12 and NPPC yields distinct phenotypes
title_full_unstemmed De novo 2q36.3q37.1 deletion encompassing TRIP12 and NPPC yields distinct phenotypes
title_short De novo 2q36.3q37.1 deletion encompassing TRIP12 and NPPC yields distinct phenotypes
title_sort de novo 2q36.3q37.1 deletion encompassing trip12 and nppc yields distinct phenotypes
topic Data Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7261772/
https://www.ncbi.nlm.nih.gov/pubmed/32528716
http://dx.doi.org/10.1038/s41439-020-0107-1
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