In:
Molecular Syndromology, S. Karger AG, Vol. 14, No. 2 ( 2023), p. 143-151
Abstract:
〈 b 〉 〈 i 〉 Introduction: 〈 /i 〉 〈 /b 〉 〈 i 〉 PACS1 〈 /i 〉 -related neurodevelopmental disorder ( 〈 i 〉 PACS1- 〈 /i 〉 related NDD) is caused by pathogenic variants in the 〈 i 〉 PACS1 〈 /i 〉 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 〈 i 〉 WDR37 〈 /i 〉 and 〈 i 〉 PACS2 〈 /i 〉 genes, although they vary in terms of severity and eye involvement. 〈 b 〉 〈 i 〉 Case Presentation: 〈 /i 〉 〈 /b 〉 Here, we describe 4 individuals with 〈 i 〉 PACS1 〈 /i 〉 -related NDD from Mexico, all of them carrying a de novo 〈 i 〉 PACS1 〈 /i 〉 variant c.607C & #x3e;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 〈 i 〉 PACS1 〈 /i 〉 -related NDD. 〈 b 〉 〈 i 〉 Discussion: 〈 /i 〉 〈 /b 〉 We reviewed the ocular phenotypes reported in 74 individuals with 〈 i 〉 PACS1 〈 /i 〉 -related NDD and the overlaps with 〈 i 〉 WDR37- 〈 /i 〉 and 〈 i 〉 PACS2 〈 /i 〉 -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 〈 i 〉 PACS1 〈 /i 〉 -related NDD and 〈 i 〉 WDR37 〈 /i 〉 syndrome, being more severe in the latter. This supports the previous statement that the so-called 〈 i 〉 WDR37 〈 /i 〉 - 〈 i 〉 PACS1 〈 /i 〉 - 〈 i 〉 PACS2 〈 /i 〉 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.
Type of Medium:
Online Resource
ISSN:
1661-8769
,
1661-8777
Language:
English
Publisher:
S. Karger AG
Publication Date:
2023
detail.hit.zdb_id:
2546218-0
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