8q21.11 microdeletion syndrome: Delineation of HEY1 as a candidate gene in neurodevelopmental and cardiac defects

Abstract

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Ocular Manifestations of Peters Plus-Like Syndrome in 8q21.11 Microdeletion Syndrome

“…9 Commonly seen facial features are wide and tall forehead, short palpebral fissures, ptosis, epicanthus, corneal opacity, a wide nasal bridge with hypoplastic nares, low-set and prominent ears, Cupid's bow of the upper lip, a highly arched palate, micrognathia, and short neck. 10 Among them, hearing loss and abnormalities in the digits were frequent characteristics of patients as reported by Palomares et al 9 Congenital ptosis and abnormalities of the hands/feet were noticed in most patients by Ben Ayed et al 11 In addition, the rare occurrence of congenital defects, such as brain and heart malformations, has been reported by Fontana et al 10 Ocular abnormalities are seen in high frequency in 8q21.11 microdeletion syndrome and thus far have been reported to range from ASD (described in the literature as corneal opacity, Peters anomaly, and sclerocornea), cataract, and retinal pigmentary degeneration. A recent report summarizing the previous literature showed that 13 of 15 patients with 8q21.11 microdeletion syndrome had dysmorphic features of various ophthalmologic anomalies, including ASD.…”

“…A recent report summarizing the previous literature showed that 13 of 15 patients with 8q21.11 microdeletion syndrome had dysmorphic features of various ophthalmologic anomalies, including ASD. 11 The 8q21.11 microdeletion syndrome [MIM#614230] is a contiguous gene deletion syndrome caused by the critical region of overlap of 540 kb on chromosome 8q21.11 (GRCh37, chr8:77226464-77766239). Furthermore, the critical region contains ZFHX4, whose variants cause only congenital ptosis (not Peters plus-like syndrome) [MIM#178300].…”

“…A recent report summarizing the previous literature showed that 13 of 15 patients with 8q21.11 microdeletion syndrome had dysmorphic features of various ophthalmologic anomalies, including ASD. 11…”