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[Genetic diagnosis of a Chinese pedigree affected with Alazami syndrome]
Fengjuan He1, Shenjian Xu, Qiwen Li
1Prenatal Diagnostic Center, Suqian First Hospital Affiliated to Nanjing Medical University, Suqian, Jiangsu 223800, China. 3227405498@qq.com.
Objective:
To explore the genetic etiology for a Chinese pedigree affected with Alazami syndrome.
Methods:
Genomic DNA was extracted for 2 patients and 2 unaffected members from the pedigree. Whole exome sequencing was carried out to detect potential variant in the proband, and the result was verified by Sanger sequencing.
Results:
The proband and her sister were both found to harbor compound heterozygous variants of LARP7 gene, namely c.94A>T (p.Lys32*) and c.1141A>G (p.Lys381Glu), which were inherited from their father and mother, respectively. Both variants were predicted to be pathogenic based on bioinformatic analysis.
Conclusion:
The two variants of the LARP7 gene, both were unreported previously, probably underlay the Alazami syndrome in this pedigree. Above finding has expanded the mutational spectrum of the LARP7 gene.
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