De novo mutation in the BIGH3/TGFB1 gene causing granular corneal dystrophy

Hilton, Emma; Black, Graeme C M; Manson, Forbes D.C.; Munier, Francis L.

doi:10.1136/bjo.2006.103283

Cited by 8 publications

(6 citation statements)

References 7 publications

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“…Although many variants cause a single well-recognizable phenotype, several produce a heterogeneous phenotype. Reduced penetrance and de novo variants have also been reported (Cao et al, 2009;Hilton, Black, Manson, Schorderet, & Munier, 2007;Hou, Hu, & Wang, 2015; J. W. Kim, Kim, & Song, 2008).…”

Section: Involvement In Disease: Clinical and Diagnostic Relevancementioning

confidence: 97%

Mutation update:TGFBIpathogenic and likely pathogenic variants in corneal dystrophies

et al. 2019

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Human transforming growth factor β‐induced (TGFBI), is a gene responsible for various corneal dystrophies. TGFBI produces a protein called TGFBI, which is involved in cell adhesion and serves as a recognition sequence for integrins. An alteration in cell surface interactions could be the underlying cause for the progressive accumulation of extracellular deposits in different layers of the cornea with the resulting changes of refractive index and transparency. To this date, 69 different pathogenic or likely pathogenic variants in TGFBI have been identified in a heterozygous or homozygous state in various corneal dystrophies, including a novel variant reported here. All disease‐associated variants were inherited as autosomal‐dominant traits but one; this latter was inherited as an autosomal recessive trait. Most corneal dystrophy‐associated variants are located at amino acids Arg124 and Arg555. To keep the list of corneal dystrophy‐associated variant current, we generated a locus‐specific database for TGFBI (http://databases.lovd.nl/shared/variants/TGFBI) containing all pathogenic and likely pathogenic variants reported so far. Non‐disease‐associated variants are described in specific databases, like gnomAD and ExAC but are not listed here. This article presents the most recent up‐to‐date list of disease‐associated variants.

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Section: Involvement In Disease: Clinical and Diagnostic Relevancementioning

confidence: 97%

Mutation update:TGFBIpathogenic and likely pathogenic variants in corneal dystrophies

et al. 2019

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“…Paternity was confirmed by polymorphic microsatellite markers for case no 612 only. However, evidence for spontaneous mutations is increasingly being reported in TGFBI-associated dystrophies 25 26…”

Section: Discussionmentioning

confidence: 99%

TGFBI mutational analysis in a New Zealand population of inherited corneal dystrophy patients

Vincent

Karolyi

Patel

et al. 2009

British Journal of Ophthalmology

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“…Lack of a family history, particular in autosomal dominant conditions, does not exclude heritability – a number of de novo mutations have been described with the TGFBI ‐associated dystrophies, with somatic mosaicism also thought to contribute to this finding …”

Section: Ic3d Classificationmentioning

confidence: 99%

Corneal dystrophies and genetics in the International Committee for Classification of Corneal Dystrophies era: a review

Vincent

2013

Clinical Exper Ophthalmology

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Many of the corneal dystrophies have now been genetically characterized, and a system was established in 2008 by The International Committee for Classification of Corneal Dystrophies (IC3D) in an attempt to standardize the nomenclature. IC3D provided a classification system whereby all dystrophies can be categorized on the basis of the underlying genetic knowledge. Since that time, further work has established even more phenotypic and allelic heterogeneity than anticipated, particular for Fuchs endothelial corneal dystrophy and posterior polymorphous dystrophy. Using genome-wide association studies, a number of genes are now implicated both in normal corneal quantitative traits, such as central corneal thickness, as well as in disease. There is also a trend towards functional characterization of the genetic variants involved to elucidate the pathophysiology of these entities. This review article will provide an overview of the knowledge to date, with an emphasis on findings since the IC3D classification was published in 2008.

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De novo mutation in the BIGH3/TGFB1 gene causing granular corneal dystrophy

Cited by 8 publications

References 7 publications

Mutation update:TGFBIpathogenic and likely pathogenic variants in corneal dystrophies

Mutation update:TGFBIpathogenic and likely pathogenic variants in corneal dystrophies

TGFBI mutational analysis in a New Zealand population of inherited corneal dystrophy patients

Corneal dystrophies and genetics in the International Committee for Classification of Corneal Dystrophies era: a review

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