Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
4
pubmed:dateCreated
2001-9-5
pubmed:databankReference
pubmed:abstractText
Maple syrup urine disease (MSUD) is a rare, autosomal recessive disorder of branched-chain amino acid metabolism. We noted that a large proportion (10 of 34) of families with MSUD that were followed in our clinic were of Ashkenazi Jewish (AJ) descent, leading us to search for a common mutation within this group. On the basis of genotyping data suggestive of a conserved haplotype at tightly linked markers on chromosome 6q14, the BCKDHB gene encoding the E1beta subunit was sequenced. Three novel mutations were identified in seven unrelated AJ patients with MSUD. The locations of the affected residues in the crystal structure of the E1beta subunit suggested possible mechanisms for the deleterious effects of these mutations. Large-scale population screening of AJ individuals for R183P, the mutation present in six of seven patients, revealed that the carrier frequency of the mutant allele was approximately 1/113; the patient not carrying R183P had a previously described homozygous mutation in the gene encoding the E2 subunit. These findings suggested that a limited number of mutations might underlie MSUD in the AJ population, potentially facilitating prenatal diagnosis and carrier detection of MSUD in this group.
pubmed:grant
pubmed:commentsCorrections
http://linkedlifedata.com/resource/pubmed/commentcorrection/11509994-10464620, http://linkedlifedata.com/resource/pubmed/commentcorrection/11509994-10464622, http://linkedlifedata.com/resource/pubmed/commentcorrection/11509994-10745006, http://linkedlifedata.com/resource/pubmed/commentcorrection/11509994-11112664, http://linkedlifedata.com/resource/pubmed/commentcorrection/11509994-11317355, http://linkedlifedata.com/resource/pubmed/commentcorrection/11509994-11448970, http://linkedlifedata.com/resource/pubmed/commentcorrection/11509994-1889817, http://linkedlifedata.com/resource/pubmed/commentcorrection/11509994-2066857, http://linkedlifedata.com/resource/pubmed/commentcorrection/11509994-2066858, http://linkedlifedata.com/resource/pubmed/commentcorrection/11509994-283398, http://linkedlifedata.com/resource/pubmed/commentcorrection/11509994-3004826, http://linkedlifedata.com/resource/pubmed/commentcorrection/11509994-6589597, http://linkedlifedata.com/resource/pubmed/commentcorrection/11509994-7492758, http://linkedlifedata.com/resource/pubmed/commentcorrection/11509994-8123297, http://linkedlifedata.com/resource/pubmed/commentcorrection/11509994-8419609, http://linkedlifedata.com/resource/pubmed/commentcorrection/11509994-8430702, http://linkedlifedata.com/resource/pubmed/commentcorrection/11509994-9504803, http://linkedlifedata.com/resource/pubmed/commentcorrection/11509994-9609836, http://linkedlifedata.com/resource/pubmed/commentcorrection/11509994-9634504, http://linkedlifedata.com/resource/pubmed/commentcorrection/11509994-9758720
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Oct
pubmed:issn
0002-9297
pubmed:author
pubmed:issnType
Print
pubmed:volume
69
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
863-8
pubmed:dateRevised
2009-11-19
pubmed:meshHeading
pubmed-meshheading:11509994-3-Methyl-2-Oxobutanoate Dehydrogenase (Lipoamide), pubmed-meshheading:11509994-Alleles, pubmed-meshheading:11509994-Base Sequence, pubmed-meshheading:11509994-Chromosomes, Human, Pair 6, pubmed-meshheading:11509994-DNA Mutational Analysis, pubmed-meshheading:11509994-Exons, pubmed-meshheading:11509994-Founder Effect, pubmed-meshheading:11509994-Gene Frequency, pubmed-meshheading:11509994-Genes, Recessive, pubmed-meshheading:11509994-Genetic Testing, pubmed-meshheading:11509994-Haplotypes, pubmed-meshheading:11509994-Heterozygote, pubmed-meshheading:11509994-Humans, pubmed-meshheading:11509994-Infant, Newborn, pubmed-meshheading:11509994-Jews, pubmed-meshheading:11509994-Ketone Oxidoreductases, pubmed-meshheading:11509994-Maple Syrup Urine Disease, pubmed-meshheading:11509994-Models, Molecular, pubmed-meshheading:11509994-Molecular Sequence Data, pubmed-meshheading:11509994-Multienzyme Complexes, pubmed-meshheading:11509994-Mutation, pubmed-meshheading:11509994-Prenatal Diagnosis, pubmed-meshheading:11509994-Protein Conformation, pubmed-meshheading:11509994-Protein Subunits, pubmed-meshheading:11509994-Sequence Deletion
pubmed:year
2001
pubmed:articleTitle
Maple syrup urine disease: identification and carrier-frequency determination of a novel founder mutation in the Ashkenazi Jewish population.
pubmed:affiliation
Department of Human Genetics, Mount Sinai School of Medicine, New York, NY 10029, USA.
pubmed:publicationType
Journal Article, Research Support, U.S. Gov't, P.H.S.