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

Yuto Kondo; Kohei Aoyama; Hisato Suzuki; Ayako Hattori; Ikumi Hori; Koichi Ito; Aya Yoshida; Mari Koroki; Kentaro Ueda; Kenjiro Kosaki; Shinji Saitoh

doi:10.1038/s41439-020-0107-1

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

Yuto Kondo, Kohei Aoyama, Hisato Suzuki, Ayako Hattori, Ikumi Hori, Koichi Ito, Aya Yoshida, Mari Koroki, Kentaro Ueda, Kenjiro Kosaki, Shinji Saitoh

Center for Medical Genetics

Research output: Contribution to journal › Article › peer-review

Abstract

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.

Original language	English
Article number	19
Journal	Human Genome Variation
Volume	7
Issue number	1
DOIs	https://doi.org/10.1038/s41439-020-0107-1
Publication status	Published - 2020 Dec 1

ASJC Scopus subject areas

Biochemistry
Molecular Biology
Genetics

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10.1038/s41439-020-0107-1

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

abstract = "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.",

author = "Yuto Kondo and Kohei Aoyama and Hisato Suzuki and Ayako Hattori and Ikumi Hori and Koichi Ito and Aya Yoshida and Mari Koroki and Kentaro Ueda and Kenjiro Kosaki and Shinji Saitoh",

note = "Funding Information: We are grateful to the patient and his family for participating in this study. Array comparative genomic hybridization was performed by TOKAI-IRUD. This study was partially supported by the Initiative on Rare and Undiagnosed Diseases in Pediatrics from the Japanese Agency for Medical Research and Development. This study makes use of data generated by the DECIPHER community. A full list of centers who contributed to the generation of the data is available from http://decipher.sanger.ac.uk and via email from decipher@sanger.ac.uk. Funding for the project was provided by Welcome. This study was partially supported by the Initiative on Rare and Undiagnosed Diseases in Pediatrics from the Japanese Agency for Medical Research and Development. Publisher Copyright: {\textcopyright} 2020, The Author(s).",

year = "2020",

month = dec,

day = "1",

doi = "10.1038/s41439-020-0107-1",

language = "English",

volume = "7",

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T1 - De novo 2q36.3q37.1 deletion encompassing TRIP12 and NPPC yields distinct phenotypes

AU - Kondo, Yuto

AU - Aoyama, Kohei

AU - Suzuki, Hisato

AU - Hattori, Ayako

AU - Hori, Ikumi

AU - Ito, Koichi

AU - Yoshida, Aya

AU - Koroki, Mari

AU - Ueda, Kentaro

AU - Kosaki, Kenjiro

AU - Saitoh, Shinji

N1 - Funding Information: We are grateful to the patient and his family for participating in this study. Array comparative genomic hybridization was performed by TOKAI-IRUD. This study was partially supported by the Initiative on Rare and Undiagnosed Diseases in Pediatrics from the Japanese Agency for Medical Research and Development. This study makes use of data generated by the DECIPHER community. A full list of centers who contributed to the generation of the data is available from http://decipher.sanger.ac.uk and via email from decipher@sanger.ac.uk. Funding for the project was provided by Welcome. This study was partially supported by the Initiative on Rare and Undiagnosed Diseases in Pediatrics from the Japanese Agency for Medical Research and Development. Publisher Copyright: © 2020, The Author(s).

PY - 2020/12/1

Y1 - 2020/12/1

N2 - 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.

AB - 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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JF - Human Genome Variation

IS - 1

M1 - 19

ER -

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

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