The Experts below are selected from a list of 318 Experts worldwide ranked by ideXlab platform
Sabine Hofer - One of the best experts on this subject based on the ideXlab platform.
-
congenital sodium diarrhea is an Autosomal Recessive Disorder of sodium proton exchange but unrelated to known candidate genes
Gastroenterology, 2000Co-Authors: Thomas Muller, Cisca Wijmenga, A D Phillips, Andreas R Janecke, Roderick H J Houwen, H Fischer, Helmut Ellemunter, Martin Fruhwirth, Felix Offner, Sabine HoferAbstract:Abstract Background & Aims: Congenital sodium diarrhea (CSD) is caused by defective sodium/proton exchange with only 6 sporadic cases reported. The genetics of the disease have not been established. We studied 5 infants with secretory diarrhea, identified in a circumscribed rural area in Austria, to define the mode of transmission and the involvement of candidate genes known to encode for sodium/proton exchangers (NHEs). Methods: We collected clinical and laboratory data from 5 affected patients, analyzed the pedigrees of their families, and performed homozygosity mapping and multipoint linkage analysis studies in 4 candidate regions known to contain NHE genes. Results: The diagnosis of CSD in 4 of 5 patients was based on daily fecal sodium excretion between 98 and 190 mmol/L, hyponatremia, metabolic acidosis, and low-to-normal urinary sodium concentrations. Pedigree analysis of the affected 2 CSD families revealed parental consanguinity and a common single ancestor 5 generations ago. Homozygosity mapping and/or multipoint linkage analysis excluded the NHE1 locus on chromosome 1, NHE2 locus on chromosome 2, NHE3 locus on chromosome 5, and NHE5 locus on chromosome 16 as potential candidate genes for CSD in this pedigree. Results on NHE4 were inconclusive because the precise chromosomal location of this NHE gene in humans is currently unknown. Conclusions: Our data indicate that CSD is an Autosomal Recessive Disorder but is not related to mutations in the NHE1, NHE2, NHE3, and NHE5 genes encoding for currently known sodium/proton exchangers. GASTROENTEROLOGY 2000;119:1506-1513
-
Congenital sodium diarrhea is an Autosomal Recessive Disorder of sodium/proton exchange but unrelated to known candidate genes
Gastroenterology, 2000Co-Authors: Thomas Muller, Cisca Wijmenga, A D Phillips, Andreas R Janecke, Roderick H J Houwen, H Fischer, Helmut Ellemunter, Martin Fruhwirth, Felix Offner, Sabine HoferAbstract:Abstract Background & Aims: Congenital sodium diarrhea (CSD) is caused by defective sodium/proton exchange with only 6 sporadic cases reported. The genetics of the disease have not been established. We studied 5 infants with secretory diarrhea, identified in a circumscribed rural area in Austria, to define the mode of transmission and the involvement of candidate genes known to encode for sodium/proton exchangers (NHEs). Methods: We collected clinical and laboratory data from 5 affected patients, analyzed the pedigrees of their families, and performed homozygosity mapping and multipoint linkage analysis studies in 4 candidate regions known to contain NHE genes. Results: The diagnosis of CSD in 4 of 5 patients was based on daily fecal sodium excretion between 98 and 190 mmol/L, hyponatremia, metabolic acidosis, and low-to-normal urinary sodium concentrations. Pedigree analysis of the affected 2 CSD families revealed parental consanguinity and a common single ancestor 5 generations ago. Homozygosity mapping and/or multipoint linkage analysis excluded the NHE1 locus on chromosome 1, NHE2 locus on chromosome 2, NHE3 locus on chromosome 5, and NHE5 locus on chromosome 16 as potential candidate genes for CSD in this pedigree. Results on NHE4 were inconclusive because the precise chromosomal location of this NHE gene in humans is currently unknown. Conclusions: Our data indicate that CSD is an Autosomal Recessive Disorder but is not related to mutations in the NHE1, NHE2, NHE3, and NHE5 genes encoding for currently known sodium/proton exchangers. GASTROENTEROLOGY 2000;119:1506-1513
Thomas Muller - One of the best experts on this subject based on the ideXlab platform.
-
congenital sodium diarrhea is an Autosomal Recessive Disorder of sodium proton exchange but unrelated to known candidate genes
Gastroenterology, 2000Co-Authors: Thomas Muller, Cisca Wijmenga, A D Phillips, Andreas R Janecke, Roderick H J Houwen, H Fischer, Helmut Ellemunter, Martin Fruhwirth, Felix Offner, Sabine HoferAbstract:Abstract Background & Aims: Congenital sodium diarrhea (CSD) is caused by defective sodium/proton exchange with only 6 sporadic cases reported. The genetics of the disease have not been established. We studied 5 infants with secretory diarrhea, identified in a circumscribed rural area in Austria, to define the mode of transmission and the involvement of candidate genes known to encode for sodium/proton exchangers (NHEs). Methods: We collected clinical and laboratory data from 5 affected patients, analyzed the pedigrees of their families, and performed homozygosity mapping and multipoint linkage analysis studies in 4 candidate regions known to contain NHE genes. Results: The diagnosis of CSD in 4 of 5 patients was based on daily fecal sodium excretion between 98 and 190 mmol/L, hyponatremia, metabolic acidosis, and low-to-normal urinary sodium concentrations. Pedigree analysis of the affected 2 CSD families revealed parental consanguinity and a common single ancestor 5 generations ago. Homozygosity mapping and/or multipoint linkage analysis excluded the NHE1 locus on chromosome 1, NHE2 locus on chromosome 2, NHE3 locus on chromosome 5, and NHE5 locus on chromosome 16 as potential candidate genes for CSD in this pedigree. Results on NHE4 were inconclusive because the precise chromosomal location of this NHE gene in humans is currently unknown. Conclusions: Our data indicate that CSD is an Autosomal Recessive Disorder but is not related to mutations in the NHE1, NHE2, NHE3, and NHE5 genes encoding for currently known sodium/proton exchangers. GASTROENTEROLOGY 2000;119:1506-1513
-
Congenital sodium diarrhea is an Autosomal Recessive Disorder of sodium/proton exchange but unrelated to known candidate genes
Gastroenterology, 2000Co-Authors: Thomas Muller, Cisca Wijmenga, A D Phillips, Andreas R Janecke, Roderick H J Houwen, H Fischer, Helmut Ellemunter, Martin Fruhwirth, Felix Offner, Sabine HoferAbstract:Abstract Background & Aims: Congenital sodium diarrhea (CSD) is caused by defective sodium/proton exchange with only 6 sporadic cases reported. The genetics of the disease have not been established. We studied 5 infants with secretory diarrhea, identified in a circumscribed rural area in Austria, to define the mode of transmission and the involvement of candidate genes known to encode for sodium/proton exchangers (NHEs). Methods: We collected clinical and laboratory data from 5 affected patients, analyzed the pedigrees of their families, and performed homozygosity mapping and multipoint linkage analysis studies in 4 candidate regions known to contain NHE genes. Results: The diagnosis of CSD in 4 of 5 patients was based on daily fecal sodium excretion between 98 and 190 mmol/L, hyponatremia, metabolic acidosis, and low-to-normal urinary sodium concentrations. Pedigree analysis of the affected 2 CSD families revealed parental consanguinity and a common single ancestor 5 generations ago. Homozygosity mapping and/or multipoint linkage analysis excluded the NHE1 locus on chromosome 1, NHE2 locus on chromosome 2, NHE3 locus on chromosome 5, and NHE5 locus on chromosome 16 as potential candidate genes for CSD in this pedigree. Results on NHE4 were inconclusive because the precise chromosomal location of this NHE gene in humans is currently unknown. Conclusions: Our data indicate that CSD is an Autosomal Recessive Disorder but is not related to mutations in the NHE1, NHE2, NHE3, and NHE5 genes encoding for currently known sodium/proton exchangers. GASTROENTEROLOGY 2000;119:1506-1513
Sharon E. Plon - One of the best experts on this subject based on the ideXlab platform.
-
Intron-Size Constraint as a Mutational Mechanism in Rothmund-Thomson Syndrome
American journal of human genetics, 2002Co-Authors: Lisa L. Wang, Kim C. Worley, Anu Gannavarapu, Murali Chintagumpala, Moise L. Levy, Sharon E. PlonAbstract:Rothmund-Thomson syndrome (RTS) is an Autosomal Recessive Disorder caused by deleterious mutations in the RECQL4 gene on chromosome 8. The RECQL4 gene structure is unusual because it contains many small introns
Beverly S. Emanuel - One of the best experts on this subject based on the ideXlab platform.
-
Unmasking an Autosomal Recessive Disorder by a deletion in the DiGeorge/Velo-cardio-facial chromosome region (DGCR) in 22q11.2
American Journal of Human Genetics, 1994Co-Authors: Marcia L. Budarf, D. Michaud, Beverly S. EmanuelAbstract:Unmasking an Autosomal Recessive Disorder by constitutional hemizygosity is well documented for the embryonal tumors RB and WAGR, where the second hit is a somatic event. Few deletion-mediated Recessive conditions have been reported in patients with germline mutations. The major platelet receptor for von Willebrand factor, Glycoprotein Ib (GpIb), is a complex of two plasma membrane glycoproteins, Ib{alpha} and Ib{beta}, covalently linked by disulfide bonds. Defects in this receptor have been associated with the rare congenital Autosomal Recessive bleeding Disorder, Bernard-Soulier syndrome (BSS). BSS is characterized by prolonged bleeding times, thrombocytopenia and very large platelets. The GpIb{beta} gene has been cloned and we have mapped it within the DGCR. We have identified a patient with phenotypic features of both BSS and VCFS. The patient was referred for 22q11-deletion FISH studies because of a conventricular VSD and mild dysmorphia. FISH with the N25 DiGeorge cosmid demonstrated a deletion in 22q11.2. Western blot analysis of the patient`s platelet proteins demonstrates a complete absence of GpIb{beta}. We suggest that haploinsufficiency for the DGCR in this patient unmasks a mutation in the remaining GpIb{beta} allele, resulting in manifestations of BSS. This mechanism, haploinsufficiency coupled with a mutation of the {open_quotes}normal{close_quotes} chromosome, might explain somemore » of the phenotypic variability seen amongst patients with 22q11.2 microdeletions. These results further suggest that patients with contiguous gene deletion syndromes are at increased risk for Autosomal Recessive Disorders and that they provide the opportunity to {open_quotes}map{close_quotes}disease loci.« less
-
unmasking an Autosomal Recessive Disorder by a deletion in the digeorge velo cardio facial chromosome region dgcr in 22q11 2
American Journal of Human Genetics, 1994Co-Authors: Marcia L. Budarf, D. Michaud, Beverly S. EmanuelAbstract:Unmasking an Autosomal Recessive Disorder by constitutional hemizygosity is well documented for the embryonal tumors RB and WAGR, where the second hit is a somatic event. Few deletion-mediated Recessive conditions have been reported in patients with germline mutations. The major platelet receptor for von Willebrand factor, Glycoprotein Ib (GpIb), is a complex of two plasma membrane glycoproteins, Ib{alpha} and Ib{beta}, covalently linked by disulfide bonds. Defects in this receptor have been associated with the rare congenital Autosomal Recessive bleeding Disorder, Bernard-Soulier syndrome (BSS). BSS is characterized by prolonged bleeding times, thrombocytopenia and very large platelets. The GpIb{beta} gene has been cloned and we have mapped it within the DGCR. We have identified a patient with phenotypic features of both BSS and VCFS. The patient was referred for 22q11-deletion FISH studies because of a conventricular VSD and mild dysmorphia. FISH with the N25 DiGeorge cosmid demonstrated a deletion in 22q11.2. Western blot analysis of the patient`s platelet proteins demonstrates a complete absence of GpIb{beta}. We suggest that haploinsufficiency for the DGCR in this patient unmasks a mutation in the remaining GpIb{beta} allele, resulting in manifestations of BSS. This mechanism, haploinsufficiency coupled with a mutation of the {open_quotes}normal{close_quotes} chromosome, might explain somemore » of the phenotypic variability seen amongst patients with 22q11.2 microdeletions. These results further suggest that patients with contiguous gene deletion syndromes are at increased risk for Autosomal Recessive Disorders and that they provide the opportunity to {open_quotes}map{close_quotes}disease loci.« less
Oivind Nilssen - One of the best experts on this subject based on the ideXlab platform.
-
spectrum of ush2a mutations in scandinavian patients with usher syndrome type ii
Human Mutation, 2008Co-Authors: Bo Dreyer, Lisbeth Tranebjaerg, Claes Möller, André Sadeghi, Thomas Rosenberg, Vigdis Brox, Oivind NilssenAbstract:Usher syndrome type II (USH2) is an Autosomal Recessive Disorder, characterised by moderate to severe high-frequency hearing impairment, normal balance function and progressive visual impairment du ...