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Temple-Baraitser syndrome (TBS) is a rear developmental disorder characterized by severe intellectual disability, epilepsy, marded hypotonia, a pseudo-myopathic appearance, and hypoplasia/aplasia fo the nails of the thumb and great toe in infancy. Here, we report a new case of TBS diagnosed in a Chinese male infant. Whole exome sequencing (WES) was carried out on DNA smples of the proband and his parents to indentify mutations associated with this disease. Sanger sequencing was performed to confirm the presence of detected variants. WES revealed two missense mutations in the TBS infant: c.1136T>C in KCNH1, c133G>A in ZBTB20. According to all predictors, mutaion in KCNH1(p.Leu379Pro) is damaging de novo mutation that results in a substitution of Leucine by Proline. Our findings demonstrate that KCNH1 mutations cause TBS and expand the mutational spectrum of KCNH1 in TBS. In addition, all cases of TBS were reviewed and compared to Zimmermannn-Laband syndrome (ZLS). We suggest that the two syndromes are both distinguished and overlapped. More information of KCNH1 mutations and their clinical consequences are needed to draw the clear phenotype-genotype correlation.

Temple-Baraitser syndrome; whole exome sequencing;KCNH1;Zimmermann-Laband syndrome