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

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...

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Detalles Bibliográficos
Autores principales: Dateki, Sumito, Kitajima, Tasuku, Kihara, Toshiharu, Watanabe, Satoshi, Yoshiura, Koh-ichiro, Moriuchi, Hiroyuki
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group 2018
Materias:
Data Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5874394/
https://www.ncbi.nlm.nih.gov/pubmed/29619239
http://dx.doi.org/10.1038/hgv.2018.14
Descripción
Sumario: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.

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