The congenital "ant-egg" cataract phenotype is caused by a missense mutation in connexin46

Lars Hansen; Wenliang Yao; Hans Eiberg; Mikkel Funding; Ruth Riise; Klaus Wilbrandt Kjær; James Fielding Hejtmancik; Thomas Rosenberg

The congenital "ant-egg" cataract phenotype is caused by a missense mutation in connexin46

Lars Hansen, Wenliang Yao, Hans Eiberg, Mikkel Funding, Ruth Riise, Klaus Wilbrandt Kjær, James Fielding Hejtmancik, Thomas Rosenberg

Department of Cellular and Molecular Medicine

36 Citations (Scopus)

Abstract

"Ant-egg" cataract is a rare, distinct variety of congenital/infantile cataract that was reported in a large Danish family in 1967. This cataract phenotype is characterized by ant-egg-like bodies embedded in the lens in a laminar configuration and is inherited as an autosomal dominant trait. We retrieved the family and performed linkage analysis to determine the disease locus and identify the mutated gene.

Original language	English
Journal	Molecular Vision
Volume	12
Issue number	116
Pages (from-to)	1033-1039
Number of pages	7
ISSN	1090-0535
Publication status	Published - 2006

Keywords

Amino Acid Sequence
Base Sequence
Cataract
Connexins
Female
Haplotypes
Humans
Leucine
Lod Score
Male
Molecular Sequence Data
Mutation, Missense
Pedigree
Phenotype
Protein Sorting Signals
Protein Structure, Tertiary
Serine

Cite this

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title = "The congenital {"}ant-egg{"} cataract phenotype is caused by a missense mutation in connexin46",

abstract = "{"}Ant-egg{"} cataract is a rare, distinct variety of congenital/infantile cataract that was reported in a large Danish family in 1967. This cataract phenotype is characterized by ant-egg-like bodies embedded in the lens in a laminar configuration and is inherited as an autosomal dominant trait. We retrieved the family and performed linkage analysis to determine the disease locus and identify the mutated gene.",

keywords = "Amino Acid Sequence, Base Sequence, Cataract, Connexins, Female, Haplotypes, Humans, Leucine, Lod Score, Male, Molecular Sequence Data, Mutation, Missense, Pedigree, Phenotype, Protein Sorting Signals, Protein Structure, Tertiary, Serine",

author = "Lars Hansen and Wenliang Yao and Hans Eiberg and Mikkel Funding and Ruth Riise and Kj{\ae}r, {Klaus Wilbrandt} and Hejtmancik, {James Fielding} and Thomas Rosenberg",

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volume = "12",

pages = "1033--1039",

journal = "Molecular Vision",

issn = "1090-0535",

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number = "116",

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TY - JOUR

T1 - The congenital "ant-egg" cataract phenotype is caused by a missense mutation in connexin46

AU - Hansen, Lars

AU - Yao, Wenliang

AU - Eiberg, Hans

AU - Funding, Mikkel

AU - Riise, Ruth

AU - Kjær, Klaus Wilbrandt

AU - Hejtmancik, James Fielding

AU - Rosenberg, Thomas

PY - 2006

Y1 - 2006

N2 - "Ant-egg" cataract is a rare, distinct variety of congenital/infantile cataract that was reported in a large Danish family in 1967. This cataract phenotype is characterized by ant-egg-like bodies embedded in the lens in a laminar configuration and is inherited as an autosomal dominant trait. We retrieved the family and performed linkage analysis to determine the disease locus and identify the mutated gene.

AB - "Ant-egg" cataract is a rare, distinct variety of congenital/infantile cataract that was reported in a large Danish family in 1967. This cataract phenotype is characterized by ant-egg-like bodies embedded in the lens in a laminar configuration and is inherited as an autosomal dominant trait. We retrieved the family and performed linkage analysis to determine the disease locus and identify the mutated gene.

KW - Amino Acid Sequence

KW - Base Sequence

KW - Cataract

KW - Connexins

KW - Female

KW - Haplotypes

KW - Humans

KW - Leucine

KW - Lod Score

KW - Male

KW - Molecular Sequence Data

KW - Mutation, Missense

KW - Pedigree

KW - Phenotype

KW - Protein Sorting Signals

KW - Protein Structure, Tertiary

KW - Serine

M3 - Journal article

C2 - 16971895

SN - 1090-0535

VL - 12

SP - 1033

EP - 1039

JO - Molecular Vision

JF - Molecular Vision

IS - 116

ER -

The congenital "ant-egg" cataract phenotype is caused by a missense mutation in connexin46

Abstract

Keywords

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