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

ABSTRACT: 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 identified. No features of hyperekplexia were identified in proband. The novel homozygous mutation of SLC6A5 gene in the proband was presently asymptomatic but they were apprised of the possibility of developing neurological symptoms in the later years.

SUBMITTER: Selina A

PROVIDER: S-EPMC7774228 | biostudies-literature | 2020 Nov

REPOSITORIES: biostudies-literature

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

Selina Agnes A John Deepa D Loganathan Lakshmi L Madhuri Vrisha V

Indian journal of ophthalmology 20201101 11

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 identified. No features of hyperekplexia were identified in proband. The novel homozy ...[more]

PMID: 33120686

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