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

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.

SUBMITTER: Dateki S

PROVIDER: S-EPMC5874394 | biostudies-literature | 2018

REPOSITORIES: biostudies-literature

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

Dateki Sumito S Kitajima Tasuku T Kihara Toshiharu T Watanabe Satoshi S Yoshiura Koh-Ichiro KI Moriuchi Hiroyuki H

Human genome variation 20180329

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]

PMID: 29619239

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