PubMed:22174939 JSONTXT

{"project":"PubmedHPO","denotations":[{"id":"T1","span":{"begin":146,"end":166},"obj":"HP_0002251"},{"id":"T2","span":{"begin":482,"end":509},"obj":"HP_0011286"}],"text":"RET mutational spectrum in Hirschsprung disease: evaluation of 601 Chinese patients.\nRare (RVs) and common variants of the RET gene contribute to Hirschsprung disease (HSCR; congenital aganglionosis). While RET common variants are strongly associated with the commonest manifestation of the disease (males; short-segment aganglionosis; sporadic), rare coding sequence (CDS) variants are more frequently found in the lesser common and more severe forms of the disease (females; long/total colonic aganglionosis; familial).Here we present the screening for RVs in the RET CDS and intron/exon boundaries of 601 Chinese HSCR patients, the largest number of patients ever reported. We identified 61 different heterozygous RVs (50 novel) distributed among 100 patients (16.64%). Those include 14 silent, 29 missense, 5 nonsense, 4 frame-shifts, and one in-frame amino-acid deletion in the CDS, two splice-site deletions, 4 nucleotide substitutions and a 22-bp deletion in the intron/exon boundaries and 1 single-nucleotide substitution in the 5' untranslated region. Exonic variants were mainly clustered in RET the extracellular domain. RET RVs were more frequent among patients with the most severe phenotype (24% vs. 15% in short-HSCR). Phasing RVs with the RET HSCR-associated haplotype suggests that RVs do not underlie the undisputable association of RET common variants with HSCR. None of the variants were found in 250 Chinese controls."}

{"project":"Allie","denotations":[{"id":"SS1_22174939_1_0","span":{"begin":146,"end":166},"obj":"expanded"},{"id":"SS2_22174939_1_0","span":{"begin":168,"end":172},"obj":"abbr"},{"id":"SS1_22174939_2_0","span":{"begin":352,"end":367},"obj":"expanded"},{"id":"SS2_22174939_2_0","span":{"begin":369,"end":372},"obj":"abbr"}],"relations":[{"id":"AE1_22174939_1_0","pred":"abbreviatedTo","subj":"SS1_22174939_1_0","obj":"SS2_22174939_1_0"},{"id":"AE1_22174939_2_0","pred":"abbreviatedTo","subj":"SS1_22174939_2_0","obj":"SS2_22174939_2_0"}],"text":"RET mutational spectrum in Hirschsprung disease: evaluation of 601 Chinese patients.\nRare (RVs) and common variants of the RET gene contribute to Hirschsprung disease (HSCR; congenital aganglionosis). While RET common variants are strongly associated with the commonest manifestation of the disease (males; short-segment aganglionosis; sporadic), rare coding sequence (CDS) variants are more frequently found in the lesser common and more severe forms of the disease (females; long/total colonic aganglionosis; familial).Here we present the screening for RVs in the RET CDS and intron/exon boundaries of 601 Chinese HSCR patients, the largest number of patients ever reported. We identified 61 different heterozygous RVs (50 novel) distributed among 100 patients (16.64%). Those include 14 silent, 29 missense, 5 nonsense, 4 frame-shifts, and one in-frame amino-acid deletion in the CDS, two splice-site deletions, 4 nucleotide substitutions and a 22-bp deletion in the intron/exon boundaries and 1 single-nucleotide substitution in the 5' untranslated region. Exonic variants were mainly clustered in RET the extracellular domain. RET RVs were more frequent among patients with the most severe phenotype (24% vs. 15% in short-HSCR). Phasing RVs with the RET HSCR-associated haplotype suggests that RVs do not underlie the undisputable association of RET common variants with HSCR. None of the variants were found in 250 Chinese controls."}

{"project":"DisGeNET5_gene_disease","denotations":[{"id":"22174939-0#0#3#gene5979","span":{"begin":0,"end":3},"obj":"gene5979"},{"id":"22174939-0#27#47#diseaseC0019569","span":{"begin":27,"end":47},"obj":"diseaseC0019569"},{"id":"22174939-2#6#9#gene5979","span":{"begin":207,"end":210},"obj":"gene5979"},{"id":"22174939-2#365#368#gene5979","span":{"begin":566,"end":569},"obj":"gene5979"},{"id":"22174939-2#281#308#diseaseC0085758","span":{"begin":482,"end":509},"obj":"diseaseC0085758"}],"relations":[{"id":"0#3#gene597927#47#diseaseC0019569","pred":"associated_with","subj":"22174939-0#0#3#gene5979","obj":"22174939-0#27#47#diseaseC0019569"},{"id":"6#9#gene5979281#308#diseaseC0085758","pred":"associated_with","subj":"22174939-2#6#9#gene5979","obj":"22174939-2#281#308#diseaseC0085758"},{"id":"365#368#gene5979281#308#diseaseC0085758","pred":"associated_with","subj":"22174939-2#365#368#gene5979","obj":"22174939-2#281#308#diseaseC0085758"}],"text":"RET mutational spectrum in Hirschsprung disease: evaluation of 601 Chinese patients.\nRare (RVs) and common variants of the RET gene contribute to Hirschsprung disease (HSCR; congenital aganglionosis). While RET common variants are strongly associated with the commonest manifestation of the disease (males; short-segment aganglionosis; sporadic), rare coding sequence (CDS) variants are more frequently found in the lesser common and more severe forms of the disease (females; long/total colonic aganglionosis; familial).Here we present the screening for RVs in the RET CDS and intron/exon boundaries of 601 Chinese HSCR patients, the largest number of patients ever reported. We identified 61 different heterozygous RVs (50 novel) distributed among 100 patients (16.64%). Those include 14 silent, 29 missense, 5 nonsense, 4 frame-shifts, and one in-frame amino-acid deletion in the CDS, two splice-site deletions, 4 nucleotide substitutions and a 22-bp deletion in the intron/exon boundaries and 1 single-nucleotide substitution in the 5' untranslated region. Exonic variants were mainly clustered in RET the extracellular domain. RET RVs were more frequent among patients with the most severe phenotype (24% vs. 15% in short-HSCR). Phasing RVs with the RET HSCR-associated haplotype suggests that RVs do not underlie the undisputable association of RET common variants with HSCR. None of the variants were found in 250 Chinese controls."}