Abstract：
Intellectual developmental disorder with dysmorphic facies and ptosis (IDDDFP) (MIM#617333) is an autosomal dominant disorder characterized by delayed psychomotor development, intellectual disability (ID), and dysmorphic facial features due to pathogenic variations in the Bromodomain- and PHD Finger-Containing Protein (BRPF1) (MIM#602410) gene. Herein, we report the first Turkish patients with IDDDFP. Additionally, the patients had hematopoietic disorders such as anemia and thrombocytopenia, which have not been previously described in IDDDFP patients. Genetic testing using Whole Exome Sequencing (WES) revealed a novel heterozygous c.1433G > A; p.W478* (NM_004634.3) pathogenic variant on exon 3 of the BRPF1 gene. The patients demonstrated classical features of IDDDFP such as intellectual disability, developmental delay, ptosis, micro and retrognathia, and dysmorphic facial features, in addition to the anemia and thrombocytopenia. Apart from the variant in BRPF1, no additional genomic changes were detected by WES and chromosomal microarray analysis (CMA). Hopefully, our novel report on the hematopoietic anomalies of our patients due to BRPF1 will expand upon the clinical spectrum of IDDDFP, encourage further studies about BRPF1-hematopoietic system relations, and affect the diagnostic and therapeutic schemes of hematopoietic system disorders.
摘要：
智力发育障碍与畸形相和上睑下垂（IDDDFP）（MIM#617333）是一种以精神运动发育延迟为特征的常染色体显性疾病，智力残疾（ID），和由于含Bromodomain和PHD手指蛋白（BRPF1）（MIM＃602410）基因的致病性变异而导致的畸形面部特征。在这里，我们报告了首例土耳其IDDDFP患者。此外,患者有造血障碍，如贫血和血小板减少症，以前没有在IDDDFP患者中描述过。使用全外显子组测序(WES)的遗传测试揭示了BRPF1基因外显子3上的新型杂合c.1433G>A;p.W478*(NM_004634.3)致病性变体。患者表现出IDDDFP的经典特征，例如智力障碍，发育迟缓,上睑下垂,微型和回颌,和畸形的面部特征，除了贫血和血小板减少。除了BRPF1中的变体之外,通过WES和染色体微阵列分析(CMA)没有检测到额外的基因组变化。希望,我们关于BRPF1导致的患者造血异常的新报告将扩展到IDDDFP的临床范围，鼓励有关BRPF1-造血系统关系的进一步研究，并影响造血系统疾病的诊断和治疗方案。
