Renpenning syndrome is an X-linked intellectual disability syndrome caused by mutations in the human polyglutamine binding protein 1 (PQBP1) gene characterized by intellectual disability (ID), microcephaly, and dysmorphic facial features. We report a Turkish child with a novel pathogenic variant in PQBP1 and a likely pathogenic variant in the PACS1 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 novel PQBP1 variant, c.640C>T; p.(Arg214Trp), and the known PACS1 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

中文翻译：

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土耳其患者的肾功能不全综合症：PACS1的新变异c.607C> T和低聚球蛋白血症表型。

Renpenning综合征是一种X连锁智力障碍综合征，由人多谷氨酰胺结合蛋白1（PQBP1）基因的突变引起，其特征为智力障碍（ID），小头畸形和面部畸形。我们报告了一个土耳其儿童，其在PQBP1中具有新型致病性变异，在PACS1基因中可能具有致病性变异，表现为生长受限，小头畸形，ID，微阴茎，双侧虹膜结肠炎和低血球蛋白血症。细胞遗传学检查是正常的，包括高分辨率带状核型。进行临床外显子组测序。我们发现了新颖的PQBP1变体，c.640C> T；p。（Arg214Trp）和已知的PACS1变体，c.607C> T；p。（Arg203Trp），在先证者中。患者的低球蛋白血症对治疗无反应。Renpenning综合征患者首次检测到这种情况。
摩尔综合症