First Report of Mexican Patients with < b > < i > PACS1 < /i > < /b > -Related Neurodevelopmental Disorder and Review of the < b > < i > PACS1 < /i > < /b > -, < b > < i > PACS2 < /i > < /b > -, and < b > < i > WDR37 < /i > < /b > -Related Ophthalmological Manifestations

Discussion: We reviewed the ocular phenotypes reported in 74 individuals withPACS1-related NDD and the overlaps withWDR37- andPACS2-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 withPACS1-related NDD andWDR37 syndrome, being more severe in the latter. This supports the previous statement that the so-calledWDR37-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.Mol Syndromol
Source: Molecular Syndromology - Category: Molecular Biology Source Type: research