Phenotypic non-penetrance in granular corneal dystrophy type II

Jung Wan Kim; Hyo Myung Kim; Jong Suk Song

doi:10.1007/s00417-008-0844-1

Phenotypic non-penetrance in granular corneal dystrophy type II

Jung Wan Kim, Hyo Myung Kim, Jong Suk Song

Research output: Contribution to journal › Article › peer-review

10 Citations (Scopus)

Abstract

Purpose: To report a possible case of phenotypic non-penetrance in granular corneal dystrophy type II (GCD-II). Methods: DNA analysis was performed on 11 patients with white granular corneal opacities and 50 normal controls after informed consent was obtained. The TGFBI gene was analyzed by sequencing DNA from epidermal keratinocytes obtained using adhesive tape. Results: The heterozygous R124H mutation of TGFBI gene was found in all 11 patients. Although 49 normal controls had no mutation in the TGFBI gene, one normal control, a 26-year-old man, had the heterozygous R124H mutation of TGFBI gene. His 55-year-old father had the same mutation, but no corneal opacities. Conclusion: As not all mutations are expressed in the phenotype, GCD-II gene mutation may have non-penetrance. This report documents a possible case of phenotypic non-penetrance in GCD-II.

Original language	English
Pages (from-to)	1629-1631
Number of pages	3
Journal	Graefe's Archive for Clinical and Experimental Ophthalmology
Volume	246
Issue number	11
DOIs	https://doi.org/10.1007/s00417-008-0844-1
Publication status	Published - 2008

Keywords

Avellino corneal dystrophy
Granular corneal dystrophy
Non-penetrance
TGFBI gene

ASJC Scopus subject areas

Ophthalmology
Sensory Systems
Cellular and Molecular Neuroscience

Access to Document

10.1007/s00417-008-0844-1

Cite this

@article{d7efe632833b45c5bd289246b20a0036,

title = "Phenotypic non-penetrance in granular corneal dystrophy type II",

abstract = "Purpose: To report a possible case of phenotypic non-penetrance in granular corneal dystrophy type II (GCD-II). Methods: DNA analysis was performed on 11 patients with white granular corneal opacities and 50 normal controls after informed consent was obtained. The TGFBI gene was analyzed by sequencing DNA from epidermal keratinocytes obtained using adhesive tape. Results: The heterozygous R124H mutation of TGFBI gene was found in all 11 patients. Although 49 normal controls had no mutation in the TGFBI gene, one normal control, a 26-year-old man, had the heterozygous R124H mutation of TGFBI gene. His 55-year-old father had the same mutation, but no corneal opacities. Conclusion: As not all mutations are expressed in the phenotype, GCD-II gene mutation may have non-penetrance. This report documents a possible case of phenotypic non-penetrance in GCD-II.",

keywords = "Avellino corneal dystrophy, Granular corneal dystrophy, Non-penetrance, TGFBI gene",

author = "Kim, {Jung Wan} and Kim, {Hyo Myung} and Song, {Jong Suk}",

year = "2008",

doi = "10.1007/s00417-008-0844-1",

language = "English",

volume = "246",

pages = "1629--1631",

journal = "Albrecht von Graefes Archiv f{\"u}r Klinische und Experimentelle Ophthalmologie",

issn = "0065-6100",

publisher = "Springer Verlag",

number = "11",

}

TY - JOUR

T1 - Phenotypic non-penetrance in granular corneal dystrophy type II

AU - Kim, Jung Wan

AU - Kim, Hyo Myung

AU - Song, Jong Suk

PY - 2008

Y1 - 2008

N2 - Purpose: To report a possible case of phenotypic non-penetrance in granular corneal dystrophy type II (GCD-II). Methods: DNA analysis was performed on 11 patients with white granular corneal opacities and 50 normal controls after informed consent was obtained. The TGFBI gene was analyzed by sequencing DNA from epidermal keratinocytes obtained using adhesive tape. Results: The heterozygous R124H mutation of TGFBI gene was found in all 11 patients. Although 49 normal controls had no mutation in the TGFBI gene, one normal control, a 26-year-old man, had the heterozygous R124H mutation of TGFBI gene. His 55-year-old father had the same mutation, but no corneal opacities. Conclusion: As not all mutations are expressed in the phenotype, GCD-II gene mutation may have non-penetrance. This report documents a possible case of phenotypic non-penetrance in GCD-II.

AB - Purpose: To report a possible case of phenotypic non-penetrance in granular corneal dystrophy type II (GCD-II). Methods: DNA analysis was performed on 11 patients with white granular corneal opacities and 50 normal controls after informed consent was obtained. The TGFBI gene was analyzed by sequencing DNA from epidermal keratinocytes obtained using adhesive tape. Results: The heterozygous R124H mutation of TGFBI gene was found in all 11 patients. Although 49 normal controls had no mutation in the TGFBI gene, one normal control, a 26-year-old man, had the heterozygous R124H mutation of TGFBI gene. His 55-year-old father had the same mutation, but no corneal opacities. Conclusion: As not all mutations are expressed in the phenotype, GCD-II gene mutation may have non-penetrance. This report documents a possible case of phenotypic non-penetrance in GCD-II.

KW - Avellino corneal dystrophy

KW - Granular corneal dystrophy

KW - Non-penetrance

KW - TGFBI gene

UR - http://www.scopus.com/inward/record.url?scp=54049142042&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=54049142042&partnerID=8YFLogxK

U2 - 10.1007/s00417-008-0844-1

DO - 10.1007/s00417-008-0844-1

M3 - Article

C2 - 18458933

AN - SCOPUS:54049142042

SN - 0065-6100

VL - 246

SP - 1629

EP - 1631

JO - Albrecht von Graefes Archiv für Klinische und Experimentelle Ophthalmologie

JF - Albrecht von Graefes Archiv für Klinische und Experimentelle Ophthalmologie

IS - 11

ER -

Phenotypic non-penetrance in granular corneal dystrophy type II

Abstract

Keywords

ASJC Scopus subject areas

Access to Document

Other files and links

Fingerprint

Cite this