A novel <it>HSF4 </it>gene mutation (p.R405X) causing autosomal recessive congenital cataracts in a large consanguineous family from Pakistan
<p>Abstract</p> <p>Background</p> <p>Hereditary cataracts are most frequently inherited as autosomal dominant traits, but can also be inherited in an autosomal recessive or X-linked fashion. To date, 12 loci for autosomal recessive cataracts have been mapped including a...
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2008-11-01T00:00:00Z.
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| 001 | doaj_69f6f9ae734b4be0bd092a6c1f17dd91 | ||
| 042 | |a dc | ||
| 100 | 1 | 0 | |a Cheema Abdul |e author |
| 700 | 1 | 0 | |a Kakar Naseebullah |e author |
| 700 | 1 | 0 | |a Goebel Ingrid |e author |
| 700 | 1 | 0 | |a Sajjad Naheed |e author |
| 700 | 1 | 0 | |a Kubisch Christian |e author |
| 700 | 1 | 0 | |a Ahmad Jamil |e author |
| 245 | 0 | 0 | |a A novel <it>HSF4 </it>gene mutation (p.R405X) causing autosomal recessive congenital cataracts in a large consanguineous family from Pakistan |
| 260 | |b BMC, |c 2008-11-01T00:00:00Z. | ||
| 500 | |a 10.1186/1471-2350-9-99 | ||
| 500 | |a 1471-2350 | ||
| 520 | |a <p>Abstract</p> <p>Background</p> <p>Hereditary cataracts are most frequently inherited as autosomal dominant traits, but can also be inherited in an autosomal recessive or X-linked fashion. To date, 12 loci for autosomal recessive cataracts have been mapped including a locus on chromosome 16q22 containing the disease-causing gene <it>HSF4 </it>(Genbank accession number <ext-link ext-link-id="NM_001040667" ext-link-type="gen">NM_001040667</ext-link>). Here, we describe a family from Pakistan with the first nonsense mutation in <it>HSF4 </it>thus expanding the mutational spectrum of this heat shock transcription factor gene.</p> <p>Methods</p> <p>A large consanguineous Pakistani family with autosomal recessive cataracts was collected from Quetta. Genetic linkage analysis was performed for the common known autosomal recessive cataracts loci and linkage to a locus containing <it>HSF4 </it>(OMIM 602438) was found. All exons and adjacent splice sites of the heat shock transcription factor 4 gene (<it>HSF4</it>) were sequenced. A mutation-specific restriction enzyme digest (H<it>ph</it>I) was performed for all family members and unrelated controls.</p> <p>Results</p> <p>The disease phenotype perfectly co-segregated with markers flanking the known cataract gene HSF4, whereas other autosomal recessive loci were excluded. A maximum two-point LOD score with a Zmax = 5.6 at θ = 0 was obtained for D16S421. Direct sequencing of HSF4 revealed the nucleotide exchange c.1213C > T in this family predicting an arginine to stop codon exchange (p.R405X).</p> <p>Conclusion</p> <p>We identified the first nonsense mutation (p.R405X) in exon 11 of <it>HSF4 </it>in a large consanguineous Pakistani family with autosomal recessive cataract.</p> | ||
| 546 | |a EN | ||
| 690 | |a Internal medicine | ||
| 690 | |a RC31-1245 | ||
| 690 | |a Genetics | ||
| 690 | |a QH426-470 | ||
| 655 | 7 | |a article |2 local | |
| 786 | 0 | |n BMC Medical Genetics, Vol 9, Iss 1, p 99 (2008) | |
| 787 | 0 | |n http://www.biomedcentral.com/1471-2350/9/99 | |
| 787 | 0 | |n https://doaj.org/toc/1471-2350 | |
| 856 | 4 | 1 | |u https://doaj.org/article/69f6f9ae734b4be0bd092a6c1f17dd91 |z Connect to this object online. |