Papers

International journal
2020

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

Human genome variation
  • Yuto Kondo
  • Kohei Aoyama
  • Hisato Suzuki
  • Ayako Hattori
  • Ikumi Hori
  • Koichi Ito
  • Aya Yoshida
  • Mari Koroki
  • Kentaro Ueda
  • Kenjiro Kosaki
  • Shinji Saitoh
  • Display all

Volume
7
Number
1
First page
19
Last page
19
Language
English
Publishing type
Research paper (scientific journal)
DOI
10.1038/s41439-020-0107-1
Publisher
Human Genome Variation

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.

Link information
DOI
https://doi.org/10.1038/s41439-020-0107-1
PubMed
https://www.ncbi.nlm.nih.gov/pubmed/32528716
PubMed Central
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7261772
URL
https://www.scopus.com/inward/record.uri?partnerID=HzOxMe3b&scp=85085682176&origin=inward
ID information
  • DOI : 10.1038/s41439-020-0107-1
  • Pubmed ID : 32528716
  • Pubmed Central ID : PMC7261772

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