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

New heritable ATRX mutation identified by whole exome sequencing and review