Co-existence of ABCB11 and DCDC2 disease: Infantile cholestasis requires both next-generation sequencing and clinical-histopathologic correlation
A boy exhibiting conjugated hyperbilirubinemia from birth, with elevated serum gamma-glutamyl transpeptidase activity (GGT), developed liver failure unusually early (7mo); GGT concomitantly normalized. ABCB4 disease was suspected, but no ABCB4 lesion was found. The boy was instead homozygous for ABC...
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| Veröffentlicht in: | European journal of human genetics : EJHG 2020-06, Vol.28 (6), p.840-844 |
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| container_title | European journal of human genetics : EJHG |
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| creator | Vogel, Georg-Friedrich Maurer, Elisabeth Entenmann, Andreas Straub, Simon Knisely, A S Janecke, Andreas R Müller, Thomas |
| description | A boy exhibiting conjugated hyperbilirubinemia from birth, with elevated serum gamma-glutamyl transpeptidase activity (GGT), developed liver failure unusually early (7mo); GGT concomitantly normalized. ABCB4 disease was suspected, but no ABCB4 lesion was found. The boy was instead homozygous for ABCB11 variant c.1213 T>C (p.(Cys405Arg)), which is predicted to affect protein function. Both ABCB4 and ABCB11 were normally expressed in the explanted liver, with intralobular cholestasis; however, large-duct sclerosing cholangiopathy and ductal-plate malformation also were present. The primary-cilium constituent doublecortin domain containing 2 (DCDC2) was not expressed. Co-existence of ABCB11 disease and DCDC2 disease was proposed. Further testing identified homozygosity for the canonical-receptor splice-site variant c.294-2A>G (p.?) in DCDC2. Our report emphasizes the need to integrate clinical, histological, and genetic data in patients with neonatal cholestasis. |
| doi_str_mv | 10.1038/s41431-020-0613-0 |
| format | Article |
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ABCB4 disease was suspected, but no ABCB4 lesion was found. The boy was instead homozygous for ABCB11 variant c.1213 T>C (p.(Cys405Arg)), which is predicted to affect protein function. Both ABCB4 and ABCB11 were normally expressed in the explanted liver, with intralobular cholestasis; however, large-duct sclerosing cholangiopathy and ductal-plate malformation also were present. The primary-cilium constituent doublecortin domain containing 2 (DCDC2) was not expressed. Co-existence of ABCB11 disease and DCDC2 disease was proposed. Further testing identified homozygosity for the canonical-receptor splice-site variant c.294-2A>G (p.?) in DCDC2. 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ABCB4 disease was suspected, but no ABCB4 lesion was found. The boy was instead homozygous for ABCB11 variant c.1213 T>C (p.(Cys405Arg)), which is predicted to affect protein function. Both ABCB4 and ABCB11 were normally expressed in the explanted liver, with intralobular cholestasis; however, large-duct sclerosing cholangiopathy and ductal-plate malformation also were present. The primary-cilium constituent doublecortin domain containing 2 (DCDC2) was not expressed. Co-existence of ABCB11 disease and DCDC2 disease was proposed. Further testing identified homozygosity for the canonical-receptor splice-site variant c.294-2A>G (p.?) in DCDC2. Our report emphasizes the need to integrate clinical, histological, and genetic data in patients with neonatal cholestasis.</description><subject>Brief Communication</subject><subject>Cholestasis</subject><subject>Doublecortin protein</subject><subject>g-Glutamyltransferase</subject><subject>Gallbladder diseases</subject><subject>Hyperbilirubinemia</subject><subject>Liver diseases</subject><subject>Neonates</subject><subject>Next-generation sequencing</subject><subject>γ-Glutamyltransferase</subject><issn>1018-4813</issn><issn>1476-5438</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2020</creationdate><recordtype>article</recordtype><sourceid>ABUWG</sourceid><sourceid>AFKRA</sourceid><sourceid>AZQEC</sourceid><sourceid>BENPR</sourceid><sourceid>CCPQU</sourceid><sourceid>DWQXO</sourceid><sourceid>GNUQQ</sourceid><recordid>eNp9kc9OVTEQxhsjEUQfwI1p4ro4_XNODy5M4IBCQuJG101Pz_TekkN7bXsNPoZvbOEikQ3pYpp83_xmJh8h7zgccZDDx6K4kpyBAAY9lwxekAOudM86JYeX7Q98YGrgcp-8LuUaoImavyL7UgiQAtQB-TMmhrehVIwOafL05HQ85ZzaONOz8WwUdA4FbcFP9DJ6G2tYkLp1WrBUW0KhGX9uQ8ZCp1TXNOJtZSuMmG0NKdLS1EYOcXVPdEuIwdmFrdvEtLG1gdIqOOpSzrjc97whe94uBd8-1EPy48v59_GCXX37ejmeXDGnhKhMdCgdn2Hw4P3Unu40SNS-w8FOulPCc3mMOPtecT3PGkTf6QG6HibhQchD8nnH3WynG5wdxprtYjY53Nj82yQbzFMlhrVZpV9Gi04q3jfAhwdATu3KUs112ubYdjZC6a7Ng_74eRdoCUOvZHPxncvlVEpG_7gHB3OXtdllbVrW5i5rA63n_f8HPHb8C1f-BYybpo4</recordid><startdate>20200601</startdate><enddate>20200601</enddate><creator>Vogel, Georg-Friedrich</creator><creator>Maurer, Elisabeth</creator><creator>Entenmann, Andreas</creator><creator>Straub, Simon</creator><creator>Knisely, A S</creator><creator>Janecke, Andreas R</creator><creator>Müller, Thomas</creator><general>Nature Publishing Group</general><general>Springer International Publishing</general><scope>NPM</scope><scope>AAYXX</scope><scope>CITATION</scope><scope>3V.</scope><scope>7X7</scope><scope>7XB</scope><scope>88A</scope><scope>88E</scope><scope>8AO</scope><scope>8FD</scope><scope>8FE</scope><scope>8FH</scope><scope>8FI</scope><scope>8FJ</scope><scope>8FK</scope><scope>ABUWG</scope><scope>AFKRA</scope><scope>AZQEC</scope><scope>BBNVY</scope><scope>BENPR</scope><scope>BHPHI</scope><scope>CCPQU</scope><scope>DWQXO</scope><scope>FR3</scope><scope>FYUFA</scope><scope>GHDGH</scope><scope>GNUQQ</scope><scope>HCIFZ</scope><scope>K9.</scope><scope>LK8</scope><scope>M0S</scope><scope>M1P</scope><scope>M7P</scope><scope>P64</scope><scope>PQEST</scope><scope>PQQKQ</scope><scope>PQUKI</scope><scope>RC3</scope><scope>5PM</scope><orcidid>https://orcid.org/0000-0001-8908-5589</orcidid><orcidid>https://orcid.org/0000-0001-7155-0315</orcidid></search><sort><creationdate>20200601</creationdate><title>Co-existence of ABCB11 and DCDC2 disease: Infantile cholestasis requires both next-generation sequencing and clinical-histopathologic correlation</title><author>Vogel, Georg-Friedrich ; 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GGT concomitantly normalized. ABCB4 disease was suspected, but no ABCB4 lesion was found. The boy was instead homozygous for ABCB11 variant c.1213 T>C (p.(Cys405Arg)), which is predicted to affect protein function. Both ABCB4 and ABCB11 were normally expressed in the explanted liver, with intralobular cholestasis; however, large-duct sclerosing cholangiopathy and ductal-plate malformation also were present. The primary-cilium constituent doublecortin domain containing 2 (DCDC2) was not expressed. Co-existence of ABCB11 disease and DCDC2 disease was proposed. Further testing identified homozygosity for the canonical-receptor splice-site variant c.294-2A>G (p.?) in DCDC2. 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| source | EZB-FREE-00999 freely available EZB journals; PubMed Central; SpringerLink Journals - AutoHoldings |
| subjects | Brief Communication Cholestasis Doublecortin protein g-Glutamyltransferase Gallbladder diseases Hyperbilirubinemia Liver diseases Neonates Next-generation sequencing γ-Glutamyltransferase |
| title | Co-existence of ABCB11 and DCDC2 disease: Infantile cholestasis requires both next-generation sequencing and clinical-histopathologic correlation |
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