Homozygosity Mapping Reveals PDE6C Mutations in Patients with Early-Onset Cone Photoreceptor Disorders
نویسندگان
چکیده
منابع مشابه
CNGA3 mutations in hereditary cone photoreceptor disorders.
We recently showed that mutations in the CNGA3 gene encoding the alpha-subunit of the cone photoreceptor cGMP-gated channel cause autosomal recessive complete achromatopsia linked to chromosome 2q11. We now report the results of a first comprehensive screening for CNGA3 mutations in a cohort of 258 additional independent families with hereditary cone photoreceptor disorders. CNGA3 mutations wer...
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PURPOSE To determine the genetic defect and to describe the clinical characteristics in a cohort of mainly nonconsanguineous cone-rod dystrophy (CRD) patients. METHODS One hundred thirty-nine patients with diagnosed CRD were recruited. Ninety of them were screened for known mutations in ABCA4, and those carrying one or two mutations were excluded from further research. Genome-wide homozygosit...
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Inherited retinal dystrophies are phenotypically and genetically heterogeneous. This extensive heterogeneity poses a challenge when performing molecular diagnosis of patients, especially in developing countries. In this study, we applied homozygosity mapping as a tool to reduce the complexity given by genetic heterogeneity and identify disease-causing variants in consanguineous Pakistani pedigr...
متن کاملRod and cone photoreceptor function in patients with cone dystrophy.
PURPOSE To determine the extent of rod and cone photoreceptor dysfunction in patients with cone dystrophy using psychophysical and electrophysiological tests. METHODS Ten patients with cone dystrophy participated. Rod and cone system psychophysical thresholds were measured as a function of retinal eccentricity. Bright-flash full-field electroretinograms were obtained under dark-adapted (rod-m...
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F1P1 V F 8 6.2 8.8 390 2 LM 1:1 ND CDA II band 3 Y462C/Y462C F2P1 V M 9 5.5 12.5 384 <0.2 LM 1:4 ND CDA II band 3 Y462C/Y462C F3P1 V M 6 10.8 6.4 368 0.4 LM 1:2 POS CDA II band 3 Y462C/Y462C F4P1 V M < 1 7.5 4.1 311 2.5 LM, EM 1:5 ND CDA II band 3 Y462C/Y462C F4P2 V M < 1 7.1 4.1 282 3.3 LM, EM 1:3 ND ND Y462C/Y462C F5P1a V M 21 8.4 3.2 301 2.6 LM, EM 1:3 ND CDA II band 3 Y462C/Y462C F6P1a V F ...
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ژورنال
عنوان ژورنال: The American Journal of Human Genetics
سال: 2009
ISSN: 0002-9297
DOI: 10.1016/j.ajhg.2009.06.016