New heritable ATRX mutation identified by whole exome sequencing and review

Abstract Background The mutations in the ATRX gene have been shown to cause two types of disorders: inherited lead alpha thalassemia X-linked mental retardation (ATR-X) syndrome and acquired somatic myelodysplastic (ATMDS). Here we report a case mutation without completely features ATR-X or ATMDS syndromes. Moreover review previous reports both ATMDS. Methods After sample collection DNA extraction, whole exome sequencing was performed using Illumina HiSeq PE150 apparatus. results were confirmed Sanger for patients his relatives. Literature based on published data Web science, Science direct, Springer link Pubmed databases. Results We identified hemizygous missense ( ATRX, c.2388A > C, p. K796N) as new disease-causing variant patient, heterozygous situation mother father wild type allele. literatures reviewed regarding syndrome. Conclusions According findings, are associated with broad spectrum clinical presentations. Therefore person mild α-thalassemia phenotype may also has gene. Accordingly, it is critical geneticist physicians increase awareness molecular diagnosis patients.