%0 Journal Article %K Glycogen storage disease %K GLUT2 %K SLC2A2 %K haplotype %K FH2 %B Berliner und Münchener Tierärztliche Wochenschrift %C Hannover %D 2016 %G English %I Schlütersche Verlagsgesellschaft mbH & Co. KG %P 132-137 %R 10.2376/0005-9366-129-132 %T Clinical and biochemical signs in Fleckvieh cattle with genetically confirmed Fanconi-Bickel syndrome (cattle homozygous for Fleckvieh haplotype 2) %V 129 %1 {"oldId":93861,"title":"Clinical and biochemical signs in Fleckvieh cattle with genetically confirmed Fanconi-Bickel syndrome (cattle homozygous for Fleckvieh haplotype 2)","topline":"Open Access","teaserText":"Klinische und biochemische Kennzeichen von Fleckviehrindern mit genetisch best\u00e4tigtem Fanconi-Bickel-Syndrom (Rinder homozygot f\u00fcr den Fleckvieh Haplotyp 2)","content":"

Summary<\/span>
Fanconi-Bickel Syndrome (FBS) is an autosomal recessive disorder of the carbohydrate metabolism, which has been reported in human and some animals (OMIA 000366-9913). In Fleckvieh cattle it is caused by mutations in SLC2A2, a gene encoding for glucose transporter protein 2 (GLUT2), which is primarily expressed in liver, kidney, pancreas and intestines. The causal mutation resides in a previously reported Fleckvieh Haplotype 2 (FH-2). FH-2 homozygous individuals are rare, but due to widespread use of heterozygous bulls in artificial insemination, heterozygous animals are likely to be present in a larger number in the cattle population.
Two clinical cases of Fleckvieh cattle with a syndrome resembling the phenotypic appearance of FBS are presented in the present study describing the association between the clinical manifestations of FBS and the postulated frameshift mutation in bovine SLC2A2. Clinical examination showed poor growth, retarded development, polyuria, and polydipsia. Laboratory analyses showed an increased plasma glucose but normal insulin concentration and increased renal glucose excretion. Histopathological examination of kidney and liver samples revealed massively increased liver glycogen storage and nephrosis. Sires of both cases were tested positive for being heterozygous carriers for the same frameshift mutation in SLC2A2 as was originally reported in Fleckvieh cattle. DNA of both cases described was analyzed and Sanger sequencing confirmed homozygosity for the frameshift mutation in SLC2A2.

Keywords:<\/span> Glycogen storage disease, GLUT2, SLC2A2, haplotype, FH2<\/p>

Zusammenfassung<\/span>
Das Fanconi-Bickel-Syndrom (FBS) ist ein autosomal rezessiver Defekt des Kohlenhydratstoffwechsels, der beim Menschen und einigen Tierarten nachgewiesen werden konnte. Bei Fleckviehrindern wird das FBS durch eine Mutation in SLC2A2, einem Gen das f\u00fcr den Glukosetransporter 2 (GLUT2) kodiert, verursacht. GLUT2 wird haupts\u00e4chlich in Leber, Niere, Pankreas und Darm exprimiert. Die kausale Mutation resultiert im bereits beschriebenen Fleckvieh Haplotype 2 (FH-2), von dem homozygote Tiere in der Fleckviehpopulation selten sind, jedoch ist durch den weitverbreiteten Einsatz der k\u00fcnstlichen Besamung eine weite Verbreitung von heterozygoten Tieren sehr wahrscheinlich. Zwei klinische F\u00e4lle bei m\u00e4nnlichen Fleckviehrindern, welche die ph\u00e4notypische Auspr\u00e4gung des FBS zeigten, werden in dieser Studie vorgestellt, um die Assoziation zwischen den klinischen Symptomen und der postulierten Frameshift Mutation im bovinem SLC2A2 zu zeigen. Die klinische Untersuchung zeigte schwachen k\u00f6rperlichen Wuchs, zur\u00fcckgebliebene Entwicklung, Polyurie und Polydipsie. Die Laboruntersuchungen zeigten erh\u00f6hte Plasmaglukosekonzentrationen bei physiologischen Insulinwerten und Glukosurie. In der pathohistologischen Untersuchung konnte eine massiv erh\u00f6hte Glukosespeicherung in der Leber und eine interstitielle Nephritis gezeigt werden. Die V\u00e4ter beider vorgestellter Tiere wurden als heterozygote Tr\u00e4ger und die zwei vorgestellten Tiere als homozygot f\u00fcr die Frameshift Mutation in SLC2A2 durch Sanger Sequenzierung best\u00e4tigt.

Schl\u00fcsselw\u00f6rter: <\/span>Glykogenspeicherkrankheit, GLUT2, SLC2A2, Haplotype, FH2

<\/p>","categories":["Open Access","Tier\u00e4rztliche Wochenschrift","Abostufe BMTW","Fachartikel","Abostufe frei"],"fromDate":"Mar 3, 2016 9:14:19 AM","oldUrls":["http:\/\/vetline.de\/clinical-and-biochemical-signs-in-fleckvieh-cattle-with-genetically-confirmed-fanconi-bickel-syndrome-cattle-homozygous-for-fleckvieh-haplotype-2\/150\/3130\/93861","http:\/\/vetline.de\/clinical-and-biochemical-signs-in-fleckvieh-cattle-with-genetically-confirmed-fanconi-bickel-syndrome-cattle-homozygous-for-fleckvieh-haplotype-2\/150\/3216\/93861"],"doiLanguage":"englisch","doiProductFormat":"online","doiPublisher":"Schl\u00fctersche Verlagsgesellschaft mbH & Co. KG","doiSerialWorkTitle":"Berl M\u00fcnch Tier\u00e4rztl Wochenschr","doiDocumentUri":"http:\/\/cf01.vetline.schluetersche.de\/files\/smfiledata\/5\/5\/5\/5\/4\/0\/BMW_2016_03_04_0132_onl300.pdf","doiSource":"Berl M\u00fcnch Tier\u00e4rztl Wochenschr 129, 132\u2013137","doiissn":"0005-9366","doiNr":"10.2376\/0005-9366-129-132","doiFirstPage":"132","doiLastPage":"137","doiTransmitted":true,"doiAuthor":"Burgstaller J, Url A, Pausch H, Schwarzenbacher H, Egerbacher M, Wittek T","pdf":{"path":"http:\/\/data\/BMW_2016_03_04_0132_onl300.pdf","title":"BMTW 3-4-2016 OA Burgstaller 132","description":""},"authors":[{"firstName":"J","middleName":"","lastName":"Burgstaller"},{"firstName":"A","middleName":"","lastName":"Url"},{"firstName":"H","middleName":"","lastName":"Pausch"},{"firstName":"H","middleName":"","lastName":"Schwarzenbacher"},{"firstName":"M","middleName":"","lastName":"Egerbacher"},{"firstName":"T","middleName":"","lastName":"Wittek"}],"contentOptimised":"

Summary<\/strong>
Fanconi-Bickel Syndrome (FBS) is an autosomal recessive disorder of the carbohydrate metabolism, which has been reported in human and some animals (OMIA 000366-9913). In Fleckvieh cattle it is caused by mutations in SLC2A2, a gene encoding for glucose transporter protein 2 (GLUT2), which is primarily expressed in liver, kidney, pancreas and intestines. The causal mutation resides in a previously reported Fleckvieh Haplotype 2 (FH-2). FH-2 homozygous individuals are rare, but due to widespread use of heterozygous bulls in artificial insemination, heterozygous animals are likely to be present in a larger number in the cattle population.
Two clinical cases of Fleckvieh cattle with a syndrome resembling the phenotypic appearance of FBS are presented in the present study describing the association between the clinical manifestations of FBS and the postulated frameshift mutation in bovine SLC2A2. Clinical examination showed poor growth, retarded development, polyuria, and polydipsia. Laboratory analyses showed an increased plasma glucose but normal insulin concentration and increased renal glucose excretion. Histopathological examination of kidney and liver samples revealed massively increased liver glycogen storage and nephrosis. Sires of both cases were tested positive for being heterozygous carriers for the same frameshift mutation in SLC2A2 as was originally reported in Fleckvieh cattle. DNA of both cases described was analyzed and Sanger sequencing confirmed homozygosity for the frameshift mutation in SLC2A2.

Keywords:<\/strong> Glycogen storage disease, GLUT2, SLC2A2, haplotype, FH2<\/p>

Zusammenfassung<\/strong>
Das Fanconi-Bickel-Syndrom (FBS) ist ein autosomal rezessiver Defekt des Kohlenhydratstoffwechsels, der beim Menschen und einigen Tierarten nachgewiesen werden konnte. Bei Fleckviehrindern wird das FBS durch eine Mutation in SLC2A2, einem Gen das f\u00fcr den Glukosetransporter 2 (GLUT2) kodiert, verursacht. GLUT2 wird haupts\u00e4chlich in Leber, Niere, Pankreas und Darm exprimiert. Die kausale Mutation resultiert im bereits beschriebenen Fleckvieh Haplotype 2 (FH-2), von dem homozygote Tiere in der Fleckviehpopulation selten sind, jedoch ist durch den weitverbreiteten Einsatz der k\u00fcnstlichen Besamung eine weite Verbreitung von heterozygoten Tieren sehr wahrscheinlich. Zwei klinische F\u00e4lle bei m\u00e4nnlichen Fleckviehrindern, welche die ph\u00e4notypische Auspr\u00e4gung des FBS zeigten, werden in dieser Studie vorgestellt, um die Assoziation zwischen den klinischen Symptomen und der postulierten Frameshift Mutation im bovinem SLC2A2 zu zeigen. Die klinische Untersuchung zeigte schwachen k\u00f6rperlichen Wuchs, zur\u00fcckgebliebene Entwicklung, Polyurie und Polydipsie. Die Laboruntersuchungen zeigten erh\u00f6hte Plasmaglukosekonzentrationen bei physiologischen Insulinwerten und Glukosurie. In der pathohistologischen Untersuchung konnte eine massiv erh\u00f6hte Glukosespeicherung in der Leber und eine interstitielle Nephritis gezeigt werden. Die V\u00e4ter beider vorgestellter Tiere wurden als heterozygote Tr\u00e4ger und die zwei vorgestellten Tiere als homozygot f\u00fcr die Frameshift Mutation in SLC2A2 durch Sanger Sequenzierung best\u00e4tigt.

Schl\u00fcsselw\u00f6rter:<\/strong>Glykogenspeicherkrankheit, GLUT2, SLC2A2, Haplotype, FH2

<\/p>","primaryLanguage":"englisch","summary":"Fanconi-Bickel Syndrome (FBS) is an autosomal recessive disorder of the carbohydrate metabolism, which has been reported in human and some animals (OMIA 000366-9913). In Fleckvieh cattle it is caused by mutations in SLC2A2, a gene encoding for glucose transporter protein 2 (GLUT2), which is primarily expressed in liver, kidney, pancreas and intestines. The causal mutation resides in a previously reported Fleckvieh Haplotype 2 (FH-2). FH-2 homozygous individuals are rare, but due to widespread use of heterozygous bulls in artificial insemination, heterozygous animals are likely to be present in a larger number in the cattle population.
Two clinical cases of Fleckvieh cattle with a syndrome resembling the phenotypic appearance of FBS are presented in the present study describing the association between the clinical manifestations of FBS and the postulated frameshift mutation in bovine SLC2A2. Clinical examination showed poor growth, retarded development, polyuria, and polydipsia. Laboratory analyses showed an increased plasma glucose but normal insulin concentration and increased renal glucose excretion. Histopathological examination of kidney and liver samples revealed massively increased liver glycogen storage and nephrosis. Sires of both cases were tested positive for being heterozygous carriers for the same frameshift mutation in SLC2A2 as was originally reported in Fleckvieh cattle. DNA of both cases described was analyzed and Sanger sequencing confirmed homozygosity for the frameshift mutation in SLC2A2.","keywords":["Glycogen storage disease","GLUT2","SLC2A2","haplotype","FH2"],"zusammenfassung":"Das Fanconi-Bickel-Syndrom (FBS) ist ein autosomal rezessiver Defekt des Kohlenhydratstoffwechsels, der beim Menschen und einigen Tierarten nachgewiesen werden konnte. Bei Fleckviehrindern wird das FBS durch eine Mutation in SLC2A2, einem Gen das f\u00fcr den Glukosetransporter 2 (GLUT2) kodiert, verursacht. GLUT2 wird haupts\u00e4chlich in Leber, Niere, Pankreas und Darm exprimiert. Die kausale Mutation resultiert im bereits beschriebenen Fleckvieh Haplotype 2 (FH-2), von dem homozygote Tiere in der Fleckviehpopulation selten sind, jedoch ist durch den weitverbreiteten Einsatz der k\u00fcnstlichen Besamung eine weite Verbreitung von heterozygoten Tieren sehr wahrscheinlich. Zwei klinische F\u00e4lle bei m\u00e4nnlichen Fleckviehrindern, welche die ph\u00e4notypische Auspr\u00e4gung des FBS zeigten, werden in dieser Studie vorgestellt, um die Assoziation zwischen den klinischen Symptomen und der postulierten Frameshift Mutation im bovinem SLC2A2 zu zeigen. Die klinische Untersuchung zeigte schwachen k\u00f6rperlichen Wuchs, zur\u00fcckgebliebene Entwicklung, Polyurie und Polydipsie. Die Laboruntersuchungen zeigten erh\u00f6hte Plasmaglukosekonzentrationen bei physiologischen Insulinwerten und Glukosurie. In der pathohistologischen Untersuchung konnte eine massiv erh\u00f6hte Glukosespeicherung in der Leber und eine interstitielle Nephritis gezeigt werden. Die V\u00e4ter beider vorgestellter Tiere wurden als heterozygote Tr\u00e4ger und die zwei vorgestellten Tiere als homozygot f\u00fcr die Frameshift Mutation in SLC2A2 durch Sanger Sequenzierung best\u00e4tigt.","schluesselwoerter":["Glykogenspeicherkrankheit","GLUT2","SLC2A2","Haplotype","FH2"],"translatedTitle":"Klinische und biochemische Kennzeichen von Fleckviehrindern mit genetisch best\u00e4tigtem Fanconi-Bickel-Syndrom (Rinder homozygot f\u00fcr den Fleckvieh Haplotyp 2)","abstractE":"Fanconi-Bickel Syndrome (FBS) is an autosomal recessive disorder of the carbohydrate metabolism, which has been reported in human and some animals (OMIA 000366-9913). In Fleckvieh cattle it is caused by mutations in SLC2A2, a gene encoding for glucose transporter protein 2 (GLUT2), which is primarily expressed in liver, kidney, pancreas and intestines. The causal mutation resides in a previously reported Fleckvieh Haplotype 2 (FH-2). FH-2 homozygous individuals are rare, but due to widespread use of heterozygous bulls in artificial insemination, heterozygous animals are likely to be present in a larger number in the cattle population. Two clinical cases of Fleckvieh cattle with a syndrome resembling the phenotypic appearance of FBS are presented in the present study describing the association between the clinical manifestations of FBS and the postulated frameshift mutation in bovine SLC2A2. Clinical examination showed poor growth, retarded development, polyuria, and polydipsia. Laboratory analyses showed an increased plasma glucose but normal insulin concentration and increased renal glucose excretion. Histopathological examination of kidney and liver samples revealed massively increased liver glycogen storage and nephrosis. Sires of both cases were tested positive for being heterozygous carriers for the same frameshift mutation in SLC2A2 as was originally reported in Fleckvieh cattle. DNA of both cases described was analyzed and Sanger sequencing confirmed homozygosity for the frameshift mutation in SLC2A2.","date":{"year":2016,"date":"03\/2016","accepted":"2016-03-03"},"volume":"129","openAccess":true,"journal":"Berliner und M\u00fcnchener Tier\u00e4rztliche Wochenschrift","titleImageId":944,"pages":"132-137","redirects":["clinical-and-biochemical-signs-in-fleckvieh-cattle-with-genetically-confirmed-fanconi-bickel-syndrome-cattle-homozygous-for-fleckvieh-haplotype-2\/150\/3130\/93861","clinical-and-biochemical-signs-in-fleckvieh-cattle-with-genetically-confirmed-fanconi-bickel-syndrome-cattle-homozygous-for-fleckvieh-haplotype-2\/150\/3216\/93861"],"tierartCategories":[],"artikelartCategories":["Open Access","Tier\u00e4rztliche Wochenschrift","Abostufe BMTW","Fachartikel","Abostufe frei"]} %7 3/4 %8 03/2016