Novel compound heterozygous variants in the LARP7 gene in a patient with Alazami syndrome View Full Text


Ontology type: schema:ScholarlyArticle      Open Access: True


Article Info

DATE

2018-03-29

AUTHORS

Sumito Dateki, Tasuku Kitajima, Toshiharu Kihara, Satoshi Watanabe, Koh-ichiro Yoshiura, Hiroyuki Moriuchi

ABSTRACT

The LARP7 gene encodes a chaperone protein of the noncoding RNA 75 K, and mutations in this gene have been identified in patients with Alazami syndrome. Herein, we report another Japanese patient with Alazami syndrome and novel compound heterozygous variants in LARP7 (i.e., c.370delG, p.Glu124fs*38 and c.641_667+25del involving the splice donor site of intron 8). These findings provide further evidence that biallelic LARP7 defects cause the phenotype of Alazami syndrome. More... »

PAGES

18014

Identifiers

URI

http://scigraph.springernature.com/pub.10.1038/hgv.2018.14

DOI

http://dx.doi.org/10.1038/hgv.2018.14

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1101828228

PUBMED

https://www.ncbi.nlm.nih.gov/pubmed/29619239


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