Renpenning Syndrome in a Turkish Patient: de novo Variant c.607C > T in < b > < i > PACS1 < /i > < /b > and Hypogammaglobulinemia Phenotype

We report a Turkish child with a novel pathogenic variant inPQBP1 and a likely pathogenic variant in thePACS1 gene presenting with growth restriction, microcephaly, ID, micropenis, bilateral iris coloboma, and hypogammaglobulinemia. Cytogenetic investigations, including a high-resolution-banded karyotype, were normal. Clinical exome sequencing was performed. We found the novelPQBP1 variant, c.640C>T; p.(Arg214Trp), and the knownPACS1 variant, c.607C>T; p.(Arg203Trp), in the proband. The patient's hypogammaglobulinemia did not respond to treatment. This condition was detected for the first time in a patient with Renpenning syndrome.Mol Syndromol 2020;11:157-161
Source: Molecular Syndromology - Category: Molecular Biology Source Type: research