Please use this identifier to cite or link to this item: http://hdl.handle.net/2440/62454
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Type: Journal article
Title: A novel syndrome of paediatric cataract, dysmorphism, ectodermal features, and developmental delay in Australian Aboriginal family maps to 1p35.3-p36.32
Author: Hattersley, K.
Laurie, K.
Liebelt, J.
Gecz, J.
Durkin, S.
Craig, J.
Burden, K.
Citation: BMC Medical Genetics, 2010; 11(1):165-1-165-6
Publisher: BioMed Central Ltd.
Issue Date: 2010
ISSN: 1471-2350
1471-2350
Statement of
Responsibility: 
Kathryn Hattersley, Kate J Laurie, Jan E Liebelt, Jozef Gecz, Shane R Durkin, Jamie E Craig and Kathryn P Burdon
Abstract: Background: A novel phenotype consisting of cataract, mental retardation, erythematous skin rash and facial dysmorphism was recently described in an extended pedigree of Australian Aboriginal descent. Large scale chromosomal re-arrangements had previously been ruled out. We have conducted a genome-wide scan to map the linkage region in this family.Methods: Genome-wide linkage analysis using Single Nucleotide Polymorphism (SNP) markers on the Affymetrix 10K SNP array was conducted and analysed using MERLIN. Three positional candidate genes (ZBTB17, EPHA2 and EPHB2) were sequenced to screen for segregating mutations. Results: Under a fully penetrant, dominant model, the locus for this unique phenotype was mapped to chromosome 1p35.3-p36.32 with a maximum LOD score of 2.41. The critical region spans 48.7 cM between markers rs966321 and rs1441834 and encompasses 527 transcripts from 364 annotated genes. No coding mutations were identified in three positional candidate genes EPHA2, EPHB2 or ZBTB17. The region overlaps with a previously reported region for Volkmann cataract and the phenotype has similarity to that reported for 1p36 monosomy. Conclusions: The gene for this syndrome is located in a 25.6 Mb region on 1p35.3-p36.32. The known cataract gene in this region (EPHA2) does not harbour mutations in this family, suggesting that at least one additional gene for cataract is present in this region.
Keywords: Chromosomes, Human, Pair 1; Humans; Cataract; Abnormalities, Multiple; Exanthema; Syndrome; Facies; Receptor, EphA2; Receptor, EphB2; Chromosome Mapping; Developmental Disabilities; Haplotypes; Phenotype; Polymorphism, Single Nucleotide; Child; Oceanic Ancestry Group; Australia; Female; Male; Kruppel-Like Transcription Factors
Rights: © 2010 Hattersley et al; licensee BioMed Central Ltd. This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/2.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
RMID: 0020101512
DOI: 10.1186/1471-2350-11-165
Appears in Collections:Paediatrics publications

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