TY - JOUR
T1 - Localisation of the gene responsible for Fechtner syndrome in a region <600 Kb on 22q11-q13
AU - Cusano, R.
AU - Gangarossa, S.
AU - Forabosco, P.
AU - Caridi, G.
AU - Ghiggeri, G. M.
AU - Russo, G.
AU - Iolascon, A.
AU - Ravazzolo, R.
AU - Seri, M.
PY - 2000
Y1 - 2000
N2 - Fechtner syndrome is an autosomal dominant disorder which has been thought to be a variant of Alport syndrome. It is characterised by nephritis, sensorineural hearing loss and eye abnormalities, as well as by macrothrombocytopenia and polymorphonuclear inclusion bodies. Recently, the Fechtner syndrome has been mapped in a 5.5 Mb region on the long arm of chromosome 22 by linkage analysis in an extended Israeli family. We describe here the genetic refinement of the Fechtner critical interval to a region less than 600 Kb by linkage analysis performed in a large Italian pedigree. The presence of several recombination events allowed the disease gene to be localised between markers D22S278 and D22S426, in a region containing only two non-recombinant markers, D22S1173 and D22S283. This interval, spanning <600 Kb on genomic DNA, has been entirely sequenced and contains six known and three putative genes.
AB - Fechtner syndrome is an autosomal dominant disorder which has been thought to be a variant of Alport syndrome. It is characterised by nephritis, sensorineural hearing loss and eye abnormalities, as well as by macrothrombocytopenia and polymorphonuclear inclusion bodies. Recently, the Fechtner syndrome has been mapped in a 5.5 Mb region on the long arm of chromosome 22 by linkage analysis in an extended Israeli family. We describe here the genetic refinement of the Fechtner critical interval to a region less than 600 Kb by linkage analysis performed in a large Italian pedigree. The presence of several recombination events allowed the disease gene to be localised between markers D22S278 and D22S426, in a region containing only two non-recombinant markers, D22S1173 and D22S283. This interval, spanning <600 Kb on genomic DNA, has been entirely sequenced and contains six known and three putative genes.
KW - Chromosome 22
KW - Fechtner syndrome
KW - Linkage analysis
KW - May-Hegglin syndrome
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U2 - 10.1038/sj.ejhg.5200533
DO - 10.1038/sj.ejhg.5200533
M3 - Article
C2 - 11093280
AN - SCOPUS:0033678756
VL - 8
SP - 895
EP - 899
JO - European Journal of Human Genetics
JF - European Journal of Human Genetics
SN - 1018-4813
IS - 11
ER -