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Year : 2020  |  Volume : 68  |  Issue : 11  |  Page : 2545-2547

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

1 Department of Paediatric Orthopaedics, Christian Medical College; Centre for Stem Cell Research, A Unit of in Stem Bengaluru, Christian Medical College, Vellore, Tamil Nadu, India
2 Department of Ophthalmology, Christian Medical College, Vellore, Tamil Nadu, India

Correspondence Address:
Dr. Vrisha Madhuri
Department of Paediatric Orthopaedics, Adjunct Scientist, Centre for Stem Cell Research, Christian Medical College, Ida Scudder Road, Vellore - 632 004, Tamil Nadu
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Source of Support: None, Conflict of Interest: None

DOI: 10.4103/ijo.IJO_325_20

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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.

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