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 fac...

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Bibliographic Details
Published in:Human genome variation 2020-06, Vol.7 (1), p.19-19, Article 19
Main Authors: Kondo, Yuto, Aoyama, Kohei, Suzuki, Hisato, Hattori, Ayako, Hori, Ikumi, Ito, Koichi, Yoshida, Aya, Koroki, Mari, Ueda, Kentaro, Kosaki, Kenjiro, Saitoh, Shinji
Format: Article
Language:English
Subjects:
692/163/2743/1530
692/699/375/366
Autism
Biomedical and Life Sciences
Biomedicine
Cell cycle
Consent
Convulsions & seizures
Data Report
Epilepsy
Gene Expression
Gene Function
Gene Therapy
Genetics
Genomes
Genotype & phenotype
Hearing loss
Human Genetics
Medical screening
Molecular Medicine
Patients
Peptides
Proteins
Strabismus
Thyroid gland
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Summary: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 .
ISSN:2054-345X
2054-345X
DOI:10.1038/s41439-020-0107-1