Identification of the genetic determinants responsible for retinal degeneration in families of Mexican descent.
Identification of the genetic determinants responsible for retinal degeneration in families of Mexican descent.
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DOI：
10.1080/13816810.2017.1373830
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发表时间：
2018-01
影响因子：
1.2
通讯作者：
Ayyagari R
中科院分区：
文献类型：
--
作者：
Villanueva A;Biswas P;Kishaba K;Suk J;Tadimeti K;Raghavendra PB;Nadeau K;Lamontagne B;Busque L;Geoffroy S;Mongrain I;Asselin G;Provost S;Dubé MP;Nudleman E;Ayyagari R
To investigate the clinical characteristics and genetic basis of inherited retinal degeneration (IRD) in six unrelated pedigrees from Mexico. A complete ophthalmic evaluation including measurement of visual acuities, Goldman kinetic or Humphrey dynamic perimetry, Amsler test, fundus photography, and color vision testing was performed. Family history and blood samples were collected from available family members. DNA from members of two pedigrees were examined for known mutations using APEX ARRP genotyping microarray and one pedigree using the APEX LCA genotyping microarray. The remaining three pedigrees were analyzed using a custom designed targeted capture array covering the exons of 233 known retinal degeneration genes. Sequencing was performed on Illumina HiSeq. Reads were mapped against hg19, and variants were annotated using GATK and filtered by exomeSuite. Segregation and ethnicity-matched control sample analyses were performed by dideoxy sequencing. Six pedigrees with IRD were analyzed. Nine rare or novel, potentially pathogenic variants segregating with the phenotype were detected in IMPDH1, USH2A, RPE65, ABCA4, and FAM161A genes. Among these, six were known mutations while the remaining three changes in USH2A, RPE65, and FAM161A genes have not been previously reported to be associated with IRD. Analysis of 100 ethnicity-matched controls did not detect the presence of these three novel variants indicating, these are rare variants in the Mexican population. Screening patients diagnosed with IRD from Mexico identified six known mutations and three rare or novel potentially damaging variants in IMPDH1, USH2A, RPE65, ABCA4 and FAM161A genes that segregated with disease.
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影响因子：
3.7
作者：
Cukras C;Gaasterland T;Lee P;Gudiseva HV;Chavali VR;Pullakhandam R;Maranhao B;Edsall L;Soares S;Reddy GB;Sieving PA;Ayyagari R
通讯作者：
Ayyagari R
DOI：
10.1126/science.1251688
发表时间：
2014-06-13
期刊：
Science (New York, N.Y.)
影响因子：
--
作者：
Moreno-Estrada A;Gignoux CR;Fernández-López JC;Zakharia F;Sikora M;Contreras AV;Acuña-Alonzo V;Sandoval K;Eng C;Romero-Hidalgo S;Ortiz-Tello P;Robles V;Kenny EE;Nuño-Arana I;Barquera-Lozano R;Macín-Pérez G;Granados-Arriola J;Huntsman S;Galanter JM;Via M;Ford JG;Chapela R;Rodriguez-Cintron W;Rodríguez-Santana JR;Romieu I;Sienra-Monge JJ;del Rio Navarro B;London SJ;Ruiz-Linares A;Garcia-Herrera R;Estrada K;Hidalgo-Miranda A;Jimenez-Sanchez G;Carnevale A;Soberón X;Canizales-Quinteros S;Rangel-Villalobos H;Silva-Zolezzi I;Burchard EG;Bustamante CD
通讯作者：
Bustamante CD
DOI：
10.1038/ejhg.2014.283
发表时间：
2015-10
期刊：
European journal of human genetics : EJHG
影响因子：
--
作者：
Lenassi E;Vincent A;Li Z;Saihan Z;Coffey AJ;Steele-Stallard HB;Moore AT;Steel KP;Luxon LM;Héon E;Bitner-Glindzicz M;Webster AR
通讯作者：
Webster AR
影响因子：
30.8
作者：
JORDAN, SA;FARRAR, GJ;HUMPHRIES, P
通讯作者：
HUMPHRIES, P
下一代测序揭示了一大群遗传性视网膜营养不良患者的基因型-表型相关性和突变谱
影响因子：
8.8
作者：
Huang, Xiu-Feng;Huang, Fang;Jin, Zi-Bing
通讯作者：
Jin, Zi-Bing