Investigation of eight candidate genes on chromosome 1p36 for autosomal dominant total congenital cataract

Kathryn P. Burdon, Kathryn Hattersley, Salil A. Lachke, Kate J. Laurie, Richard L. Maas, David A. Mackey, Jamie E. Craig

Research output: Contribution to journalArticle

3 Citations (Scopus)

Abstract

Purpose: To identify the causative gene for autosomal dominant total congenital cataract in a six-generation Australian family displaying linkage to chromosome 1p36. Methods: Eight candidate genes (HSPB7, FBXO42, EFHD2, ZBTB17, CAPZB, FBLIM1, ALDH4A1, and MFAP2) from within the previously defined linkage interval were selected based on expression in lens and their known or putative function. The coding exons were sequenced in multiple affected family members and compared to the reference sequence. Results: No segregating mutations were identified in any of the eight genes. Thirty-one polymorphisms were detected, 20 of which were in the exons and 11 in the flanking introns. Conclusions: Coding mutations in HSPB7, FBXO42, EFHD2, ZBTB17, CAPZB, FBLIM1, ALDH4A1, and MFAP2 do not account for congenital cataract in this family.

LanguageEnglish
Pages1799-1804
Number of pages6
JournalMolecular Vision
Volume14
Publication statusPublished - 6 Oct 2008
Externally publishedYes

ASJC Scopus subject areas

  • Ophthalmology

Cite this

Burdon, K. P., Hattersley, K., Lachke, S. A., Laurie, K. J., Maas, R. L., Mackey, D. A., & Craig, J. E. (2008). Investigation of eight candidate genes on chromosome 1p36 for autosomal dominant total congenital cataract. Molecular Vision, 14, 1799-1804.
Burdon, Kathryn P. ; Hattersley, Kathryn ; Lachke, Salil A. ; Laurie, Kate J. ; Maas, Richard L. ; Mackey, David A. ; Craig, Jamie E. / Investigation of eight candidate genes on chromosome 1p36 for autosomal dominant total congenital cataract. In: Molecular Vision. 2008 ; Vol. 14. pp. 1799-1804.
@article{958873857c314ac498266499f1adb098,
title = "Investigation of eight candidate genes on chromosome 1p36 for autosomal dominant total congenital cataract",
abstract = "Purpose: To identify the causative gene for autosomal dominant total congenital cataract in a six-generation Australian family displaying linkage to chromosome 1p36. Methods: Eight candidate genes (HSPB7, FBXO42, EFHD2, ZBTB17, CAPZB, FBLIM1, ALDH4A1, and MFAP2) from within the previously defined linkage interval were selected based on expression in lens and their known or putative function. The coding exons were sequenced in multiple affected family members and compared to the reference sequence. Results: No segregating mutations were identified in any of the eight genes. Thirty-one polymorphisms were detected, 20 of which were in the exons and 11 in the flanking introns. Conclusions: Coding mutations in HSPB7, FBXO42, EFHD2, ZBTB17, CAPZB, FBLIM1, ALDH4A1, and MFAP2 do not account for congenital cataract in this family.",
author = "Burdon, {Kathryn P.} and Kathryn Hattersley and Lachke, {Salil A.} and Laurie, {Kate J.} and Maas, {Richard L.} and Mackey, {David A.} and Craig, {Jamie E.}",
year = "2008",
month = "10",
day = "6",
language = "English",
volume = "14",
pages = "1799--1804",
journal = "Molecular Vision",
issn = "1090-0535",

}

Burdon, KP, Hattersley, K, Lachke, SA, Laurie, KJ, Maas, RL, Mackey, DA & Craig, JE 2008, 'Investigation of eight candidate genes on chromosome 1p36 for autosomal dominant total congenital cataract', Molecular Vision, vol. 14, pp. 1799-1804.

Investigation of eight candidate genes on chromosome 1p36 for autosomal dominant total congenital cataract. / Burdon, Kathryn P.; Hattersley, Kathryn; Lachke, Salil A.; Laurie, Kate J.; Maas, Richard L.; Mackey, David A.; Craig, Jamie E.

In: Molecular Vision, Vol. 14, 06.10.2008, p. 1799-1804.

Research output: Contribution to journalArticle

TY - JOUR

T1 - Investigation of eight candidate genes on chromosome 1p36 for autosomal dominant total congenital cataract

AU - Burdon, Kathryn P.

AU - Hattersley, Kathryn

AU - Lachke, Salil A.

AU - Laurie, Kate J.

AU - Maas, Richard L.

AU - Mackey, David A.

AU - Craig, Jamie E.

PY - 2008/10/6

Y1 - 2008/10/6

N2 - Purpose: To identify the causative gene for autosomal dominant total congenital cataract in a six-generation Australian family displaying linkage to chromosome 1p36. Methods: Eight candidate genes (HSPB7, FBXO42, EFHD2, ZBTB17, CAPZB, FBLIM1, ALDH4A1, and MFAP2) from within the previously defined linkage interval were selected based on expression in lens and their known or putative function. The coding exons were sequenced in multiple affected family members and compared to the reference sequence. Results: No segregating mutations were identified in any of the eight genes. Thirty-one polymorphisms were detected, 20 of which were in the exons and 11 in the flanking introns. Conclusions: Coding mutations in HSPB7, FBXO42, EFHD2, ZBTB17, CAPZB, FBLIM1, ALDH4A1, and MFAP2 do not account for congenital cataract in this family.

AB - Purpose: To identify the causative gene for autosomal dominant total congenital cataract in a six-generation Australian family displaying linkage to chromosome 1p36. Methods: Eight candidate genes (HSPB7, FBXO42, EFHD2, ZBTB17, CAPZB, FBLIM1, ALDH4A1, and MFAP2) from within the previously defined linkage interval were selected based on expression in lens and their known or putative function. The coding exons were sequenced in multiple affected family members and compared to the reference sequence. Results: No segregating mutations were identified in any of the eight genes. Thirty-one polymorphisms were detected, 20 of which were in the exons and 11 in the flanking introns. Conclusions: Coding mutations in HSPB7, FBXO42, EFHD2, ZBTB17, CAPZB, FBLIM1, ALDH4A1, and MFAP2 do not account for congenital cataract in this family.

UR - http://www.scopus.com/inward/record.url?scp=54449094753&partnerID=8YFLogxK

M3 - Article

VL - 14

SP - 1799

EP - 1804

JO - Molecular Vision

T2 - Molecular Vision

JF - Molecular Vision

SN - 1090-0535

ER -

Burdon KP, Hattersley K, Lachke SA, Laurie KJ, Maas RL, Mackey DA et al. Investigation of eight candidate genes on chromosome 1p36 for autosomal dominant total congenital cataract. Molecular Vision. 2008 Oct 6;14:1799-1804.