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

Burdon KP, Hattersley K, Lachke SA, Laurie KJ, Maas RL, Mackey DA, Craig JE - Mol. Vis. (2008)

Bottom Line: The coding exons were sequenced in multiple affected family members and compared to the reference sequence.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.

View Article: PubMed Central - PubMed

Affiliation: Department of Ophthalmology, Flinders University, Adelaide, Australia. kathryn.burdon@flinders.edu.au

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.

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Related in: MedlinePlus

Ideogram of chromosome 1 showing approximate location of the linkage region and each candidate gene. The flanking microsatellite markers are shown. The direction of transcription of each gene is indicated with arrows below the symbol. Note that gene size and position are approximate only. Sixty genes are found in this region in total.
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f2: Ideogram of chromosome 1 showing approximate location of the linkage region and each candidate gene. The flanking microsatellite markers are shown. The direction of transcription of each gene is indicated with arrows below the symbol. Note that gene size and position are approximate only. Sixty genes are found in this region in total.

Mentions: Annotated genes with a function or putative function that could be linked to cataract formation and a known expression in human lens or fetal eye were chosen for sequencing. The fetal eye was considered to be an appropriate tissue due to the congenital (and thus developmental) nature of the phenotype in this family. The genes chosen were HSPB7, FBXO42, EFHD2, ZBTB17, CAPZB, FBLIM1, ALDH4A1, and MFAP2 (Appendix 1, Figure 2). PAX7 was previously excluded by direct sequencing [3].


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

Burdon KP, Hattersley K, Lachke SA, Laurie KJ, Maas RL, Mackey DA, Craig JE - Mol. Vis. (2008)

Ideogram of chromosome 1 showing approximate location of the linkage region and each candidate gene. The flanking microsatellite markers are shown. The direction of transcription of each gene is indicated with arrows below the symbol. Note that gene size and position are approximate only. Sixty genes are found in this region in total.
© Copyright Policy - open-access
Related In: Results  -  Collection

License
Show All Figures
getmorefigures.php?uid=PMC2563027&req=5

f2: Ideogram of chromosome 1 showing approximate location of the linkage region and each candidate gene. The flanking microsatellite markers are shown. The direction of transcription of each gene is indicated with arrows below the symbol. Note that gene size and position are approximate only. Sixty genes are found in this region in total.
Mentions: Annotated genes with a function or putative function that could be linked to cataract formation and a known expression in human lens or fetal eye were chosen for sequencing. The fetal eye was considered to be an appropriate tissue due to the congenital (and thus developmental) nature of the phenotype in this family. The genes chosen were HSPB7, FBXO42, EFHD2, ZBTB17, CAPZB, FBLIM1, ALDH4A1, and MFAP2 (Appendix 1, Figure 2). PAX7 was previously excluded by direct sequencing [3].

Bottom Line: The coding exons were sequenced in multiple affected family members and compared to the reference sequence.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.

View Article: PubMed Central - PubMed

Affiliation: Department of Ophthalmology, Flinders University, Adelaide, Australia. kathryn.burdon@flinders.edu.au

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.

Show MeSH
Related in: MedlinePlus