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Article

Case report of a PRDM5 linked brittle cornea syndrome type 2 in association with a novel SLC6A5 mutation.

Indian journal of ophthalmology - 1 Nov 2020

Selina Agnes, John Deepa, Loganathan Lakshmi, Madhuri Vrisha

Abstract excerpt

A 3-year-old girl presenting with blue sclera, hyperlaxity and developmental dysplasia of hip was found to have bilateral corneal thinning with astigmatism and keratoconus. By clinical exome sequencing, a frameshift mutation c.713_716 del TTTG p.(Val238Alafs*35) in PRDM5 gene causing brittle cornea syndrome 2 and a novel frameshift mutation c.401dup p.(Ser135Glufs*53) in SLC6A5 gene causing Hyperekplexia 3 were...

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Identifiers

PMID: 33120686
DOI: 10.4103/ijo.IJO_325_20
PMCID: PMC7774228

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