LymphedemaV1, PascalFrancis, Curation, bibRecord, 000350

A novel frameshift mutation of FOXC2 gene in a family with hereditary lymphedema-distichiasis syndrome associated with renal disease and diabetes mellitus

Identifieur interne : 000350 ( PascalFrancis/Curation ); précédent : 000349; suivant : 000351

A novel frameshift mutation of FOXC2 gene in a family with hereditary lymphedema-distichiasis syndrome associated with renal disease and diabetes mellitus

Auteurs : Cagri Yildirim-Toruner [États-Unis] ; Kavitha Subramanian [États-Unis] ; Lamya El Manjra [États-Unis] ; Emily Chen [États-Unis] ; Stanley Goldstein [États-Unis] ; Emilia Vitale [États-Unis, Italie]

Source :

American journal of medical genetics [ 0148-7299 ] ; 2004.

RBID : Pascal:05-0028033

Descripteurs français

Pascal (Inist)
- Lymphoedème, Mutation cadre lecture, Gène, Distichiasis, Milieu familial, Etude familiale, Néphropathie, Héréditaire, Syndrome, Rein pathologie, Complexe, Phénotype, Diabète, Insuline, Sensibilité résistance, Génétique, Homme, Association génétique.
Wicri :
- topic : Diabète, Génétique, Homme.

English descriptors

KwdEn :
- Complexes, Diabetes mellitus, Distichiasis, Family environment, Family study, Frameshift mutation, Gene, Genetics, Hereditary, Human, Insulin, Kidney disease, Lymphedema, Nephropathy, Phenotype, Sensitivity resistance, Syndrome.

Abstract

Lymphedema-distichiasis (LD) syndrome is a clinically variable autosomal dominant disorder. The disorder is caused by mutations in the forkhead transcription factor FOXC2 gene on chromosome band 16q24.3. Here, we report the sequence of the FOXC2 gene in a German-Irish family with LD in six affected relatives over three generations and identify a single adenine base pair insertion at nt 10061007. This insertion creates a frame-shift mutation that predicts a premature stop at codon 462. In addition to LD, four of the affected family members have renal disease and three have diabetes mellitus (DM), not usually seen in the LD syndrome. Polymorphisms of FOXC2 in diabetics have been studied in different populations. Our sequence analysis of the 5' untranslated region (UTR) C-512T shows the homozygous T allele in all family members tested. The sequencing data in this family suggests the possibility of a novel phenotype-haplotype. This novel phenotype, LD/ renal disease/type 2 diabetes, might be the result of a combination of the nt 10061007 insA and the upstream UTR homozygous T polymorphism.

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C01	`01`		`ENG`	@0 Lymphedema-distichiasis (LD) syndrome is a clinically variable autosomal dominant disorder. The disorder is caused by mutations in the forkhead transcription factor FOXC2 gene on chromosome band 16q24.3. Here, we report the sequence of the FOXC2 gene in a German-Irish family with LD in six affected relatives over three generations and identify a single adenine base pair insertion at nt 10061007. This insertion creates a frame-shift mutation that predicts a premature stop at codon 462. In addition to LD, four of the affected family members have renal disease and three have diabetes mellitus (DM), not usually seen in the LD syndrome. Polymorphisms of FOXC2 in diabetics have been studied in different populations. Our sequence analysis of the 5' untranslated region (UTR) C-512T shows the homozygous T allele in all family members tested. The sequencing data in this family suggests the possibility of a novel phenotype-haplotype. This novel phenotype, LD/ renal disease/type 2 diabetes, might be the result of a combination of the nt 10061007 insA and the upstream UTR homozygous T polymorphism.
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C03	`13`	`X`	`FRE`	`@0 Diabète @5 13`
C03	`13`	`X`	`ENG`	`@0 Diabetes mellitus @5 13`
C03	`13`	`X`	`SPA`	`@0 Diabetes @5 13`
C03	`14`	`X`	`FRE`	`@0 Insuline @5 14`
C03	`14`	`X`	`ENG`	`@0 Insulin @5 14`
C03	`14`	`X`	`SPA`	`@0 Insulina @5 14`
C03	`15`	`X`	`FRE`	`@0 Sensibilité résistance @5 15`
C03	`15`	`X`	`ENG`	`@0 Sensitivity resistance @5 15`
C03	`15`	`X`	`SPA`	`@0 Sensibilidad resistencia @5 15`
C03	`16`	`X`	`FRE`	`@0 Génétique @5 17`
C03	`16`	`X`	`ENG`	`@0 Genetics @5 17`
C03	`16`	`X`	`SPA`	`@0 Genética @5 17`
C03	`17`	`X`	`FRE`	`@0 Homme @5 18`
C03	`17`	`X`	`ENG`	`@0 Human @5 18`
C03	`17`	`X`	`SPA`	`@0 Hombre @5 18`
C03	`18`	`X`	`FRE`	`@0 Association génétique @4 INC @5 86`
C07	`01`	`X`	`FRE`	`@0 Appareil circulatoire pathologie @5 37`
C07	`01`	`X`	`ENG`	`@0 Cardiovascular disease @5 37`
C07	`01`	`X`	`SPA`	`@0 Aparato circulatorio patología @5 37`
C07	`02`	`X`	`FRE`	`@0 Lymphatique pathologie @5 38`
C07	`02`	`X`	`ENG`	`@0 Lymphatic vessel disease @5 38`
C07	`02`	`X`	`SPA`	`@0 Linfático patología @5 38`
C07	`03`	`X`	`FRE`	`@0 Maladie héréditaire @5 39`
C07	`03`	`X`	`ENG`	`@0 Genetic disease @5 39`
C07	`03`	`X`	`SPA`	`@0 Enfermedad hereditaria @5 39`
C07	`04`	`X`	`FRE`	`@0 Oeil pathologie @5 40`
C07	`04`	`X`	`ENG`	`@0 Eye disease @5 40`
C07	`04`	`X`	`SPA`	`@0 Ojo patología @5 40`
C07	`05`	`X`	`FRE`	`@0 Paupière pathologie @5 41`
C07	`05`	`X`	`ENG`	`@0 Eyelid disease @5 41`
C07	`05`	`X`	`SPA`	`@0 Párpado patología @5 41`
C07	`06`	`X`	`FRE`	`@0 Appareil urinaire pathologie @5 42`
C07	`06`	`X`	`ENG`	`@0 Urinary system disease @5 42`
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Le document en format XML

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<sourceDesc><biblStruct><analytic><title xml:lang="en" level="a">A novel frameshift mutation of FOXC2 gene in a family with hereditary lymphedema-distichiasis syndrome associated with renal disease and diabetes mellitus</title>
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<profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Complexes</term>
<term>Diabetes mellitus</term>
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<term>Family environment</term>
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<term>Frameshift mutation</term>
<term>Gene</term>
<term>Genetics</term>
<term>Hereditary</term>
<term>Human</term>
<term>Insulin</term>
<term>Kidney disease</term>
<term>Lymphedema</term>
<term>Nephropathy</term>
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<term>Distichiasis</term>
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<term>Etude familiale</term>
<term>Néphropathie</term>
<term>Héréditaire</term>
<term>Syndrome</term>
<term>Rein pathologie</term>
<term>Complexe</term>
<term>Phénotype</term>
<term>Diabète</term>
<term>Insuline</term>
<term>Sensibilité résistance</term>
<term>Génétique</term>
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<front><div type="abstract" xml:lang="en">Lymphedema-distichiasis (LD) syndrome is a clinically variable autosomal dominant disorder. The disorder is caused by mutations in the forkhead transcription factor FOXC2 gene on chromosome band 16q24.3. Here, we report the sequence of the FOXC2 gene in a German-Irish family with LD in six affected relatives over three generations and identify a single adenine base pair insertion at nt 10061007. This insertion creates a frame-shift mutation that predicts a premature stop at codon 462. In addition to LD, four of the affected family members have renal disease and three have diabetes mellitus (DM), not usually seen in the LD syndrome. Polymorphisms of FOXC2 in diabetics have been studied in different populations. Our sequence analysis of the 5' untranslated region (UTR) C-512T shows the homozygous T allele in all family members tested. The sequencing data in this family suggests the possibility of a novel phenotype-haplotype. This novel phenotype, LD/ renal disease/type 2 diabetes, might be the result of a combination of the nt 10061007 insA and the upstream UTR homozygous T polymorphism.</div>
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<s3>USA</s3>
<sZ>1 aut.</sZ>
<sZ>2 aut.</sZ>
<sZ>3 aut.</sZ>
<sZ>6 aut.</sZ>
</fA14>
<fA14 i1="02"><s1>Kaiser Permanente Santa Teresa Medical Center</s1>
<s2>San Jose, California</s2>
<s3>USA</s3>
<sZ>4 aut.</sZ>
</fA14>
<fA14 i1="03"><s1>Department of Pediatrics, UMDNJ</s1>
<s2>Newark, New Jeresy</s2>
<s3>USA</s3>
<sZ>5 aut.</sZ>
</fA14>
<fA14 i1="04"><s1>CNR Institute of Cybernetics</s1>
<s2>Naples</s2>
<s3>ITA</s3>
<sZ>6 aut.</sZ>
</fA14>
<fA20><s1>281-286</s1>
</fA20>
<fA21><s1>2004</s1>
</fA21>
<fA23 i1="01"><s0>ENG</s0>
</fA23>
<fA43 i1="01"><s1>INIST</s1>
<s2>17405</s2>
<s5>354000121134040080</s5>
</fA43>
<fA44><s0>0000</s0>
<s1>© 2005 INIST-CNRS. All rights reserved.</s1>
</fA44>
<fA45><s0>19 ref.</s0>
</fA45>
<fA47 i1="01" i2="1"><s0>05-0028033</s0>
</fA47>
<fA60><s1>P</s1>
</fA60>
<fA61><s0>A</s0>
</fA61>
<fA64 i1="01" i2="1"><s0>American journal of medical genetics</s0>
</fA64>
<fA66 i1="01"><s0>USA</s0>
</fA66>
<fC01 i1="01" l="ENG"><s0>Lymphedema-distichiasis (LD) syndrome is a clinically variable autosomal dominant disorder. The disorder is caused by mutations in the forkhead transcription factor FOXC2 gene on chromosome band 16q24.3. Here, we report the sequence of the FOXC2 gene in a German-Irish family with LD in six affected relatives over three generations and identify a single adenine base pair insertion at nt 10061007. This insertion creates a frame-shift mutation that predicts a premature stop at codon 462. In addition to LD, four of the affected family members have renal disease and three have diabetes mellitus (DM), not usually seen in the LD syndrome. Polymorphisms of FOXC2 in diabetics have been studied in different populations. Our sequence analysis of the 5' untranslated region (UTR) C-512T shows the homozygous T allele in all family members tested. The sequencing data in this family suggests the possibility of a novel phenotype-haplotype. This novel phenotype, LD/ renal disease/type 2 diabetes, might be the result of a combination of the nt 10061007 insA and the upstream UTR homozygous T polymorphism.</s0>
</fC01>
<fC02 i1="01" i2="X"><s0>002B23A</s0>
</fC02>
<fC02 i1="02" i2="X"><s0>002B12B04</s0>
</fC02>
<fC02 i1="03" i2="X"><s0>002B21E01A</s0>
</fC02>
<fC03 i1="01" i2="X" l="FRE"><s0>Lymphoedème</s0>
<s5>01</s5>
</fC03>
<fC03 i1="01" i2="X" l="ENG"><s0>Lymphedema</s0>
<s5>01</s5>
</fC03>
<fC03 i1="01" i2="X" l="SPA"><s0>Linfedema</s0>
<s5>01</s5>
</fC03>
<fC03 i1="02" i2="X" l="FRE"><s0>Mutation cadre lecture</s0>
<s5>02</s5>
</fC03>
<fC03 i1="02" i2="X" l="ENG"><s0>Frameshift mutation</s0>
<s5>02</s5>
</fC03>
<fC03 i1="02" i2="X" l="SPA"><s0>Mutación frameshift</s0>
<s5>02</s5>
</fC03>
<fC03 i1="03" i2="X" l="FRE"><s0>Gène</s0>
<s5>03</s5>
</fC03>
<fC03 i1="03" i2="X" l="ENG"><s0>Gene</s0>
<s5>03</s5>
</fC03>
<fC03 i1="03" i2="X" l="SPA"><s0>Gen</s0>
<s5>03</s5>
</fC03>
<fC03 i1="04" i2="X" l="FRE"><s0>Distichiasis</s0>
<s5>04</s5>
</fC03>
<fC03 i1="04" i2="X" l="ENG"><s0>Distichiasis</s0>
<s5>04</s5>
</fC03>
<fC03 i1="04" i2="X" l="SPA"><s0>Distiquiasis</s0>
<s5>04</s5>
</fC03>
<fC03 i1="05" i2="X" l="FRE"><s0>Milieu familial</s0>
<s5>05</s5>
</fC03>
<fC03 i1="05" i2="X" l="ENG"><s0>Family environment</s0>
<s5>05</s5>
</fC03>
<fC03 i1="05" i2="X" l="SPA"><s0>Medio familiar</s0>
<s5>05</s5>
</fC03>
<fC03 i1="06" i2="X" l="FRE"><s0>Etude familiale</s0>
<s5>06</s5>
</fC03>
<fC03 i1="06" i2="X" l="ENG"><s0>Family study</s0>
<s5>06</s5>
</fC03>
<fC03 i1="06" i2="X" l="SPA"><s0>Estudio familiar</s0>
<s5>06</s5>
</fC03>
<fC03 i1="07" i2="X" l="FRE"><s0>Néphropathie</s0>
<s5>07</s5>
</fC03>
<fC03 i1="07" i2="X" l="ENG"><s0>Nephropathy</s0>
<s5>07</s5>
</fC03>
<fC03 i1="07" i2="X" l="SPA"><s0>Nefropatía</s0>
<s5>07</s5>
</fC03>
<fC03 i1="08" i2="X" l="FRE"><s0>Héréditaire</s0>
<s5>08</s5>
</fC03>
<fC03 i1="08" i2="X" l="ENG"><s0>Hereditary</s0>
<s5>08</s5>
</fC03>
<fC03 i1="08" i2="X" l="SPA"><s0>Hereditario</s0>
<s5>08</s5>
</fC03>
<fC03 i1="09" i2="X" l="FRE"><s0>Syndrome</s0>
<s5>09</s5>
</fC03>
<fC03 i1="09" i2="X" l="ENG"><s0>Syndrome</s0>
<s5>09</s5>
</fC03>
<fC03 i1="09" i2="X" l="SPA"><s0>Síndrome</s0>
<s5>09</s5>
</fC03>
<fC03 i1="10" i2="X" l="FRE"><s0>Rein pathologie</s0>
<s5>10</s5>
</fC03>
<fC03 i1="10" i2="X" l="ENG"><s0>Kidney disease</s0>
<s5>10</s5>
</fC03>
<fC03 i1="10" i2="X" l="SPA"><s0>Riñón patología</s0>
<s5>10</s5>
</fC03>
<fC03 i1="11" i2="X" l="FRE"><s0>Complexe</s0>
<s2>NA</s2>
<s5>11</s5>
</fC03>
<fC03 i1="11" i2="X" l="ENG"><s0>Complexes</s0>
<s2>NA</s2>
<s5>11</s5>
</fC03>
<fC03 i1="11" i2="X" l="SPA"><s0>Complejo</s0>
<s2>NA</s2>
<s5>11</s5>
</fC03>
<fC03 i1="12" i2="X" l="FRE"><s0>Phénotype</s0>
<s5>12</s5>
</fC03>
<fC03 i1="12" i2="X" l="ENG"><s0>Phenotype</s0>
<s5>12</s5>
</fC03>
<fC03 i1="12" i2="X" l="SPA"><s0>Fenotipo</s0>
<s5>12</s5>
</fC03>
<fC03 i1="13" i2="X" l="FRE"><s0>Diabète</s0>
<s5>13</s5>
</fC03>
<fC03 i1="13" i2="X" l="ENG"><s0>Diabetes mellitus</s0>
<s5>13</s5>
</fC03>
<fC03 i1="13" i2="X" l="SPA"><s0>Diabetes</s0>
<s5>13</s5>
</fC03>
<fC03 i1="14" i2="X" l="FRE"><s0>Insuline</s0>
<s5>14</s5>
</fC03>
<fC03 i1="14" i2="X" l="ENG"><s0>Insulin</s0>
<s5>14</s5>
</fC03>
<fC03 i1="14" i2="X" l="SPA"><s0>Insulina</s0>
<s5>14</s5>
</fC03>
<fC03 i1="15" i2="X" l="FRE"><s0>Sensibilité résistance</s0>
<s5>15</s5>
</fC03>
<fC03 i1="15" i2="X" l="ENG"><s0>Sensitivity resistance</s0>
<s5>15</s5>
</fC03>
<fC03 i1="15" i2="X" l="SPA"><s0>Sensibilidad resistencia</s0>
<s5>15</s5>
</fC03>
<fC03 i1="16" i2="X" l="FRE"><s0>Génétique</s0>
<s5>17</s5>
</fC03>
<fC03 i1="16" i2="X" l="ENG"><s0>Genetics</s0>
<s5>17</s5>
</fC03>
<fC03 i1="16" i2="X" l="SPA"><s0>Genética</s0>
<s5>17</s5>
</fC03>
<fC03 i1="17" i2="X" l="FRE"><s0>Homme</s0>
<s5>18</s5>
</fC03>
<fC03 i1="17" i2="X" l="ENG"><s0>Human</s0>
<s5>18</s5>
</fC03>
<fC03 i1="17" i2="X" l="SPA"><s0>Hombre</s0>
<s5>18</s5>
</fC03>
<fC03 i1="18" i2="X" l="FRE"><s0>Association génétique</s0>
<s4>INC</s4>
<s5>86</s5>
</fC03>
<fC07 i1="01" i2="X" l="FRE"><s0>Appareil circulatoire pathologie</s0>
<s5>37</s5>
</fC07>
<fC07 i1="01" i2="X" l="ENG"><s0>Cardiovascular disease</s0>
<s5>37</s5>
</fC07>
<fC07 i1="01" i2="X" l="SPA"><s0>Aparato circulatorio patología</s0>
<s5>37</s5>
</fC07>
<fC07 i1="02" i2="X" l="FRE"><s0>Lymphatique pathologie</s0>
<s5>38</s5>
</fC07>
<fC07 i1="02" i2="X" l="ENG"><s0>Lymphatic vessel disease</s0>
<s5>38</s5>
</fC07>
<fC07 i1="02" i2="X" l="SPA"><s0>Linfático patología</s0>
<s5>38</s5>
</fC07>
<fC07 i1="03" i2="X" l="FRE"><s0>Maladie héréditaire</s0>
<s5>39</s5>
</fC07>
<fC07 i1="03" i2="X" l="ENG"><s0>Genetic disease</s0>
<s5>39</s5>
</fC07>
<fC07 i1="03" i2="X" l="SPA"><s0>Enfermedad hereditaria</s0>
<s5>39</s5>
</fC07>
<fC07 i1="04" i2="X" l="FRE"><s0>Oeil pathologie</s0>
<s5>40</s5>
</fC07>
<fC07 i1="04" i2="X" l="ENG"><s0>Eye disease</s0>
<s5>40</s5>
</fC07>
<fC07 i1="04" i2="X" l="SPA"><s0>Ojo patología</s0>
<s5>40</s5>
</fC07>
<fC07 i1="05" i2="X" l="FRE"><s0>Paupière pathologie</s0>
<s5>41</s5>
</fC07>
<fC07 i1="05" i2="X" l="ENG"><s0>Eyelid disease</s0>
<s5>41</s5>
</fC07>
<fC07 i1="05" i2="X" l="SPA"><s0>Párpado patología</s0>
<s5>41</s5>
</fC07>
<fC07 i1="06" i2="X" l="FRE"><s0>Appareil urinaire pathologie</s0>
<s5>42</s5>
</fC07>
<fC07 i1="06" i2="X" l="ENG"><s0>Urinary system disease</s0>
<s5>42</s5>
</fC07>
<fC07 i1="06" i2="X" l="SPA"><s0>Aparato urinario patología</s0>
<s5>42</s5>
</fC07>
<fC07 i1="07" i2="X" l="FRE"><s0>Endocrinopathie</s0>
<s5>43</s5>
</fC07>
<fC07 i1="07" i2="X" l="ENG"><s0>Endocrinopathy</s0>
<s5>43</s5>
</fC07>
<fC07 i1="07" i2="X" l="SPA"><s0>Endocrinopatía</s0>
<s5>43</s5>
</fC07>
<fN21><s1>010</s1>
</fN21>
<fN44 i1="01"><s1>OTO</s1>
</fN44>
<fN82><s1>OTO</s1>
</fN82>
</pA>
</standard>
</inist>
</record>

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A novel frameshift mutation of FOXC2 gene in a family with hereditary lymphedema-distichiasis syndrome associated with renal disease and diabetes mellitus

A novel frameshift mutation of FOXC2 gene in a family with hereditary lymphedema-distichiasis syndrome associated with renal disease and diabetes mellitus

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