Analysis of a patient with X-linked mental retardation by next generation sequencing / 中华医学遗传学杂志

ABSTRACT

<p><b>OBJECTIVE</b>To explore the clinical and genetic features of a Chinese boy featuring X-linked mental retardation.</p><p><b>METHODS</b>Clinical features of the patient were analyzed. The DNA of the patient and his parents was extracted and sequenced by next generation sequencing. The results were validated and analyzed with software.</p><p><b>RESULTS</b>The child displayed X-linked mental retardation. Sequencing showed the patient has carried a c.455T>C (p.L152P) mutation of the GRIA3 gene inherited from his mother.</p><p><b>CONCLUSION</b>The c.455T>C (p.L152P) mutation of the GRIA3 gene probably underlies the X-linked mental retardation in this child.</p>