Abstract
BackgroundMutations occurring in the orthodenticle homeobox 2 gene (OTX2) are responsible for a rare genetic syndrome, characterized mainly by microphthalmia/anophthalmia associated with extra-ocular defects such as brain malformations, pituitary abnormalities, short stature and intellectual disability. To date, the spectrum of radiological features observed in patients with OTX2 mutations has never been summarized.Case presentationIn this report, we describe a case of large microdeletion encompassing OTX2 but not BMP4 presenting with a syndromic anophthalmia with corpus callosum hypoplasia, pituitary gland hypoplasia and vermian hypoplasia.ConclusionOur case report provides an illustration of the neuroradiological spectrum in a case of OTX2-related syndrome and the first radiological evidence of 14q22.2q23.1 deletion associated posterior cranial fossa anomalies.
Highlights
Mutations occurring in the orthodenticle homeobox 2 gene (OTX2) are responsible for a rare genetic syndrome, characterized mainly by microphthalmia/anophthalmia associated with extra-ocular defects such as brain malformations, pituitary abnormalities, short stature and intellectual disability
The major phenotype reported in patients with OTX2 mutations consists of isolated or syndromic microphthalmia/anophthalmia, possibly associated with extra-ocular defects such as brain malformations, pituitary abnormalities, short stature and intellectual disability [4]
The analysis showed a de novo 6,41 Mb deletion at 14q22.2-q23.1 (55386907–61,795,829, NCBI Build 37 hg19, February 2009), involving 43 genes including OTX2 and other 7 genes reported as disease causing in OMIM database (Fig. 2)
Summary
Mutations occurring in the orthodenticle homeobox 2 gene (OTX2) are responsible for a rare genetic syndrome, characterized mainly by microphthalmia/anophthalmia associated with extra-ocular defects such as brain malformations, pituitary abnormalities, short stature and intellectual disability. The major phenotype reported in patients with OTX2 mutations consists of isolated or syndromic microphthalmia/anophthalmia, possibly associated with extra-ocular defects such as brain malformations, pituitary abnormalities, short stature and intellectual disability [4].
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