%0 Case Reports
%T First Report of Mexican Patients with PACS1-Related Neurodevelopmental Disorder and Review of the PACS1-, PACS2-, and WDR37-Related Ophthalmological Manifestations.
%A Corona-Rivera JR
%A Zenteno JC
%A López-Pérez LG
%A Yokoyama-Rebollar E
%A Villarroel CE
%A Barragán-Arévalo T
%A Montes-Almanza LÁ
%A Zepeda-Romero LC
%A Morales-Domínguez GE
%A Peña-Padilla C
%A Bobadilla-Morales L
%A Corona-Rivera A
%J Mol Syndromol
%V 14
%N 2
%D Apr 2023
%M 37064331
%F 1.494
%R 10.1159/000526975
%X <B>UNASSIGNED: </B>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, and structural anomalies of the brain, heart, eye, and kidney. There is a marked facial resemblance and a common multisystem affectation with patients carrying pathogenic variants in the WDR37 and PACS2 genes, although they vary in terms of severity and eye involvement.<BR><B>UNASSIGNED: </B>Here, we describe 4 individuals with PACS1-related NDD from Mexico, all of them carrying a de novo PACS1 variant c.607C>T; p.(Arg203Trp) identified by exome sequencing. In addition to eye colobomata, this report identified corneal leukoma, cataracts, and tortuosity of retinal vessels as ophthalmic manifestations not previously reported in patients with PACS1-related NDD.<BR><B>UNASSIGNED: </B>We reviewed the ocular phenotypes reported in 74 individuals with PACS1-related NDD and the overlaps with WDR37- and PACS2-related syndromes. We found that the 3 syndromes have in common the presence of colobomata, ptosis, nystagmus, strabismus, and refractive errors, whereas microphthalmia, microcornea, and Peters anomaly are found only among individuals with PACS1-related NDD and WDR37 syndrome, being more severe in the latter. This supports the previous statement that the so-called WDR37-PACS1-PACS2 axis might have an important role in ocular development and also that the specific ocular findings could be useful in the clinical differentiation between these related syndromes.