File:Unilateral microphthalmia patient with delection of SOX2 gene.png

This is a patient with micophthalmia and was caused by the deletion of the SOX2 gene sequence. When compared to his parents, the absence of the gene sequence is more obvious (red arrow), whereas in his parent's genome, the SOX2 gene is normal and present.

Identification of a c.70del20 mutation in a patient with unilateral microphthalmia. A: Photograph of Patient 1 with SOX2 anophthalmia syndrome. Note right microphthalmia (prosthesis in place) and prominent ears. B: Sequence fragments showing the c.70del20 region in the patient (p), his mother (m) and his father (f). The position of the deletion is indicated with a red arrow. Note normal SOX2 sequence in the patient’s parents consistent with their unaffected status.

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