title: Novel TACSTD2 mutation in gelatinous drop-like corneal dystrophy.
abstract: We identified a novel mutation in the tumor-associated calcium signal transducer 2 (TACSTD2) gene in a consanguineous Thai family with gelatinous drop-like corneal dystrophy (GDLD). All affected family members presented with an intense amyloid substance deposited on the cornea, which required surgical management. Genetic analysis of these individuals revealed a homozygous mutation c.79delC, in the TACSTD2 gene. Both parents of these individuals were unaffected and showed heterozygous mutations in the TACSTD2 gene. The mutation produced a truncated protein sequence that might be the cause of GDLD.
authors.affiliation: Department of Ophthalmology, Ramathibodi Hospital, Mahidol University , Bangkok, Thailand.
authors.forename: Passara
authors.initials: P
authors.lastname: Jongkhajornpong
authors.affiliation: Department of Ophthalmology, Ramathibodi Hospital, Mahidol University , Bangkok, Thailand.
authors.forename: Kaevalin
authors.initials: K
authors.lastname: Lekhanont
authors.affiliation: Department of Ophthalmology, Kyoto Prefectural University of Medicine, Kyoto, Japan; Department of Frontier Medical Science and Technology for Ophthalmology, Kyoto Prefectural University of Medicine, Kyoto, Japan.
authors.forename: Mayumi
authors.initials: M
authors.lastname: Ueta
authors.affiliation: Department of Ophthalmology, Kyoto Prefectural University of Medicine , Kyoto, Japan.
authors.forename: Koji
authors.initials: K
authors.lastname: Kitazawa
authors.affiliation: Department of Ophthalmology, Osaka University , Osaka, Japan.
authors.forename: Satoshi
authors.initials: S
authors.lastname: Kawasaki
authors.affiliation: Department of Frontier Medical Science and Technology for Ophthalmology, Kyoto Prefectural University of Medicine , Kyoto, Japan.
authors.forename: Shigeru
authors.initials: S
authors.lastname: Kinoshita