...Hannah Massey; Stephen Tennant; John Dean; The DDD study Introduction: Whole-exome sequencing has led to the discovery of new genes involved in developmental delay. Two of these are the evolutionary linked proteins phosphofurin acidic cluster sorting protein 1 (PACS1) and phosphofurin acidic...

... Corona-Rivera Introduction: PACS1 -related neurodevelopmental disorder ( PACS1- related NDD) is caused by pathogenic variants in the PACS1 gene and is characterized by a distinctive facial appearance, intellectual disability, speech delay, seizures, feeding difficulties, cryptorchidism, hernias...

... 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...