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Jean-michel Rozet - One of the best experts on this subject based on the ideXlab platform.
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A first locus for isolated autosomal recessive optic atrophy (ROA1) maps to Chromosome 8q
European Journal of Human Genetics, 2003Co-Authors: Fabienne Barbet, Sylvie Gerber, Sélim Hakiki, Isabelle Perrault, Sylvain Hanein, Dominique Ducroq, Gaëlle Tanguy, Jean-louis Dufier, Arnold Munnich, Jean-michel RozetAbstract:In contrast to the frequent dominant optic atrophies (DOAs) in which the neuropathy is usually an isolated event, isolated recessive optic atrophies (ROAs) are very uncommon and have been described as severe congenital or early infantile conditions. To date, two loci for isolated DOA have been mapped, of which one was ascribed to mutations in the OPA1 gene. Conversely, no isolated autosomal ROA locus had previously been localised. Here, we report a large multiplex consanguineous family of French origin affected with an early onset but slowly progressive form of isolated OA. A genome-wide search for homozygosity allowed the localisation of the disease-causing gene to Chromosome 8q21–q22 (Zmax of 3.41 at θ =0 for D8S270), in a 12 Mb interval flanked by markers D8S1702 and D8S1794. This localisation excludes allelism of the disease with both isolated DOAs, on one hand, or all known syndromic forms of ROA, on the other hand, supporting the mapping of a first gene for isolated autosomal ROA (ROA1) on the long arm of Chromosome 8.
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A first locus for isolated autosomal recessive optic atrophy (ROA1) maps to Chromosome 8q.
European journal of human genetics : EJHG, 2003Co-Authors: Fabienne Barbet, Sylvie Gerber, Sélim Hakiki, Isabelle Perrault, Sylvain Hanein, Dominique Ducroq, Gaëlle Tanguy, Jean-louis Dufier, Arnold Munnich, Jean-michel RozetAbstract:Genetically determined optic atrophies (OA) affect the retinal ganglion cells, the retinal fibre layer or the intra-ocular portion of the optic nerve. Autosomal dominant optic atrophies (DOA) are the most common form of hereditary optic neuropathy (prevalence 1 : 50,000). The genetic heterogeneity of DOA has been demonstrated. Three loci have been reported: OPA1 [3q28–q29; MIM 165500], OPA4 [18q12.2–q12.3; MIM 605293, and OPA5 (22q12.1–q13.1)1. OPA1 which accounts for about 90% of DOA is due to mutations in the Msp1 protein [MIM 605290].
Fabienne Barbet - One of the best experts on this subject based on the ideXlab platform.
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A first locus for isolated autosomal recessive optic atrophy (ROA1) maps to Chromosome 8q
European Journal of Human Genetics, 2003Co-Authors: Fabienne Barbet, Sylvie Gerber, Sélim Hakiki, Isabelle Perrault, Sylvain Hanein, Dominique Ducroq, Gaëlle Tanguy, Jean-louis Dufier, Arnold Munnich, Jean-michel RozetAbstract:In contrast to the frequent dominant optic atrophies (DOAs) in which the neuropathy is usually an isolated event, isolated recessive optic atrophies (ROAs) are very uncommon and have been described as severe congenital or early infantile conditions. To date, two loci for isolated DOA have been mapped, of which one was ascribed to mutations in the OPA1 gene. Conversely, no isolated autosomal ROA locus had previously been localised. Here, we report a large multiplex consanguineous family of French origin affected with an early onset but slowly progressive form of isolated OA. A genome-wide search for homozygosity allowed the localisation of the disease-causing gene to Chromosome 8q21–q22 (Zmax of 3.41 at θ =0 for D8S270), in a 12 Mb interval flanked by markers D8S1702 and D8S1794. This localisation excludes allelism of the disease with both isolated DOAs, on one hand, or all known syndromic forms of ROA, on the other hand, supporting the mapping of a first gene for isolated autosomal ROA (ROA1) on the long arm of Chromosome 8.
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A first locus for isolated autosomal recessive optic atrophy (ROA1) maps to Chromosome 8q.
European journal of human genetics : EJHG, 2003Co-Authors: Fabienne Barbet, Sylvie Gerber, Sélim Hakiki, Isabelle Perrault, Sylvain Hanein, Dominique Ducroq, Gaëlle Tanguy, Jean-louis Dufier, Arnold Munnich, Jean-michel RozetAbstract:Genetically determined optic atrophies (OA) affect the retinal ganglion cells, the retinal fibre layer or the intra-ocular portion of the optic nerve. Autosomal dominant optic atrophies (DOA) are the most common form of hereditary optic neuropathy (prevalence 1 : 50,000). The genetic heterogeneity of DOA has been demonstrated. Three loci have been reported: OPA1 [3q28–q29; MIM 165500], OPA4 [18q12.2–q12.3; MIM 605293, and OPA5 (22q12.1–q13.1)1. OPA1 which accounts for about 90% of DOA is due to mutations in the Msp1 protein [MIM 605290].
Cor W. R. J. Cremers - One of the best experts on this subject based on the ideXlab platform.
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Narrowing the genetic interval and yeast artificial Chromosome map in the Branchio-Oto-Renal region on Chromosome 8q.
Genomics, 1996Co-Authors: Shrawan Kumar, William J. Kimberling, Henri A. M. Marres, Sue Tinley, Arpad Lanyi, Janos Sumegi, Jeff Pinnt, Paul S. Ing, Cor W. R. J. CremersAbstract:Branchio-oto-renal (BOR) syndrome is an autosomal dominant disorder characterized by branchial abnormality, hearing loss, and renal anomalies. Recently, the disease gene has been localized to Chromosome 8q. Here, we report genetic studies that further refine the disease gene region to a smaller interval and identify several YACs from the critical region. We studied two large, clinically well-characterized BOR families with a set of 13 polymorphic markers spanning the D8S165-D8S275 interval from the Chromosome 8q region. Based on multipoint analysis, the highest likelihood for the location of the BOR gene is between markers D8S543 and D8S530, a distance of about 2 cM. YACs that map in the BOR critical region have been identified and characterized by fluorescence in situ hybridization and pulsed-field gel electrophoresis. A YAC contig, based on the STS content map, that covers a minimum of 4 Mb of human DNA in the critical region of BOR is assembled. This lays the groundwork for the construction of a transcriptional map of this region and the eventual identification of genes involved in BOR syndrome.
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Refining the region of branchio-oto-renal syndrome and defining the flanking markers on Chromosome 8q by genetic mapping
American journal of human genetics, 1994Co-Authors: Shrawan Kumar, William J. Kimberling, Henri A. M. Marres, Christopher J. Connolly, Sue Tinley, Cor W. R. J. CremersAbstract:Branchio-oto-renal syndrome (BOR) is an autosomal dominant disorder associated with external-, middle-, and inner-ear malformations, branchial cleft sinuses, cervical fistulas, mixed hearing loss, and renal anomalies. The gene for BOR was mapped to the long arm of Chromosome 8q. Several polymorphic dinucleotide repeat markers were investigated for linkage in two large BOR families, and the region of localization was refined. Two-point linkage analysis yielded the maximum lod scores of 7.44 at {theta} = .03 and 6.71 at {theta} = .04, with markers D8S279 and D8S260, respectively. A multipoint analysis was carried out to position the BOR gene with a defined region using markers D8S165, D8S285, PENK, D8S166, D8S260, D8S279, D8S164, D8S286, D8S84, D8S275, D8S167, D8S273, and D8S271. Haplotype analysis of recombination events at these polymorphic loci was also performed in multigeneration BOR kindreds. The linkage analysis and analysis of recombination events identified markers that clearly flank the BOR locus. The order was determined to be D8S260-BOR-D8S279 at odds > 10{sup 3}:1 over the other possible orders. This flanking markers provide a resource for high-resolution mapping toward cloning and characterizing the BOR gene.
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autosomal dominant branchio oto renal syndrome localization of a disease gene to Chromosome 8q by linkage in a dutch family
Human Molecular Genetics, 1992Co-Authors: Shrawan Kumar, Richard J.h. Smith, William J. Kimberling, J. B. Kenyon, Henri A. M. Marres, Cor W. R. J. CremersAbstract:Branchio-oto-renal syndrome (BOR) is an autosomal dominant disorder with variable clinical manifestations affecting branchial, renal and auditory development. Varying clinical expression of the disease between different families suggests that multiple loci may be involved. However, the possibility of genetic heterogeneity as the cause of clinical variability cannot be resolved until the gene(s) causing BOR syndrome are mapped. DNA from four generations of a family with autosomal dominant BOR syndrome have been typed with a series of genetic markers on the long arm of Chromosome 8. Using two point linkage analysis, a significant lod score of Z = 4.0 at theta = 0.05 was obtained with the D8S165 microsatellite marker. Multipoint analyses with 8q markers place the gene for BOR between the markers D8S87 and D8S165.
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Autosomal dominant branchio-oto-renal syndrome—localization of a disease gene to Chromosome 8q by linkage in a Dutch family
Human Molecular Genetics, 1992Co-Authors: Shrawan Kumar, Richard J.h. Smith, William J. Kimberling, J. B. Kenyon, Henri A. M. Marres, Cor W. R. J. CremersAbstract:Branchio-oto-renal syndrome (BOR) is an autosomal dominant disorder with variable clinical manifestations affecting branchial, renal and auditory development. Varying clinical expression of the disease between different families suggests that multiple loci may be involved. However, the possibility of genetic heterogeneity as the cause of clinical variability cannot be resolved until the gene(s) causing BOR syndrome are mapped. DNA from four generations of a family with autosomal dominant BOR syndrome have been typed with a series of genetic markers on the long arm of Chromosome 8. Using two point linkage analysis, a significant lod score of Z = 4.0 at theta = 0.05 was obtained with the D8S165 microsatellite marker. Multipoint analyses with 8q markers place the gene for BOR between the markers D8S87 and D8S165.
Tahseen Al-saleem - One of the best experts on this subject based on the ideXlab platform.
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The correlation between gain of Chromosome 8q and survival in patients with clear and papillary renal cell carcinoma
Therapeutic advances in urology, 2017Co-Authors: Reza Mehrazin, Essel Dulaimi, Robert G. Uzzo, Karthik Devarjan, Jianming Pei, Marc C. Smaldone, Alexander Kutikov, Joseph R. Testa, Tahseen Al-saleemAbstract:Background:The proto-oncogene c-MYC, located on Chromosome 8q, can be upregulated through gain of 8q, causing alteration in biology of renal cell carcinoma (RCC). The aim of this study was to evalu...
Wendy H. Raskind - One of the best experts on this subject based on the ideXlab platform.
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hereditary spastic paraplegia advances in genetic research
Neurology, 1996Co-Authors: Terry Heimanpatterson, Franca Cambi, J. L. Haines, Mariepierre Dube, Margaret A Pericakvance, Afif Hentati, Denise A. Figlewicz, Thomas D. Bird, Wendy H. RaskindAbstract:Hereditary spastic paraplegia (HSP) is a diverse group of inherited disorders characterized by progressive lower-extremity spasticity and weakness. Insight into the genetic basis of these disorders is expanding rapidly. Uncomplicated autosomal dominant, autosomal recessive, and X-linked HSP are genetically heterogeneous: different genes cause clinically indistinguishable disorders. A locus for autosomal recessive HSP is on Chromosome 8q. Loci for autosomal dominant HSP have been identified on Chromosomes 2p, 14q, and 15q. One locus (Xq22) has been identified for X-linked, uncomplicated HSP and shown to be due to a proteolipoprotein gene mutation in one family. The existence of HSP families for whom these loci are excluded indicates the existence of additional, as yet unidentified HSP loci. There is marked clinical similarity among HSP families linked to each of these loci, suggesting that gene products from HSP loci may participate in a common biochemical cascade, which, if disturbed, results in axonal degeneration that is maximal at the ends of the longest CNS axons. Identifying the single gene defects that cause HSPs distal axonopathy may provide insight into factors responsible for development and maintenance of axonal integrity. We review clinical, genetic, and pathologic features of HSP and present differential diagnosis and diagnostic criteria of this important group of disorders. We discuss polymorphic microsatellite markers useful for genetic linkage analysis and genetic counseling in HSP. NEUROLOGY 1996;46: 1507-1514
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hereditary spastic paraplegia advances in genetic research
Neurology, 1996Co-Authors: John K. Fink, Franca Cambi, J. L. Haines, Mariepierre Dube, Margaret A Pericakvance, Afif Hentati, Denise A. Figlewicz, Terry Heimanpatterson, Thomas D. Bird, Wendy H. RaskindAbstract:Hereditary spastic paraplegia (HSP) is a diverse group of inherited disorders characterized by progressive lower-extremity spasticity and weakness. Insight into the genetic basis of these disorders is expanding rapidly. Uncomplicated autosomal dominant, autosomal recessive, and X-linked HSP are genetically heterogeneous: different genes cause clinically indistinguishable disorders. A locus for autosomal recessive HSP is on Chromosome 8q. Loci for autosomal dominant HSP have been identified on Chromosomes 2p, 14q, and 15q. One locus (Xq22) has been identified for X-linked, uncomplicated HSP and shown to be due to a proteolipoprotein gene mutation in one family. The existence of HSP families for whom these loci are excluded indicates the existence of additional, as yet unidentified HSP loci. There is marked clinical similarity among HSP families linked to each of these loci, suggesting that gene products from HSP loci may participate in a common biochemical cascade, which, if disturbed, results in axonal degeneration that is maximal at the ends of the longest CNS axons. Identifying the single gene defects that cause HSPs distal axonopathy may provide insight into factors responsible for development and maintenance of axonal integrity. We review clinical, genetic, and pathologic features of HSP and present differential diagnosis and diagnostic criteria of this important group of disorders. We discuss polymorphic microsatellite markers useful for genetic linkage analysis and genetic counseling in HSP.