Novel compound heterozygous variants in the LARP7 gene in a patient with Alazami syndrome
| Autor: | Toshiharu Kihara, Satoshi Watanabe, Sumito Dateki, Hiroyuki Moriuchi, Koh-ichiro Yoshiura, Tasuku Kitajima |
|---|---|
| Jazyk: | angličtina |
| Rok vydání: | 2018 |
| Předmět: |
0301 basic medicine
Genetics business.industry Intron ALAZAMI SYNDROME Biology Compound heterozygosity Non-coding RNA Biochemistry Phenotype 03 medical and health sciences 030104 developmental biology 0302 clinical medicine Text mining Data Report In patient business Molecular Biology Gene 030217 neurology & neurosurgery |
| Zdroj: | Human Genome Variation |
| ISSN: | 2054-345X |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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