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Truncating SLC12A6 variants cause different clinical phenotypes in humans and dogs
Clinical, pathological, and genetic findings of a primary hereditary ataxia found in a Malinois dog family are described and compared with its human counterpart. Based on the family history and the phenotype/genotype relationships already described in humans and dogs, a causal variant was expected t...
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Published in: | European journal of human genetics : EJHG 2019-10, Vol.27 (10), p.1561-1568 |
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creator | Van Poucke, Mario Stee, Kimberley Sonck, Laurien Stock, Emmelie Bosseler, Leslie Van Dorpe, Jo Van Nieuwerburgh, Filip Deforce, Dieter Peelman, Luc J Van Ham, Luc Bhatti, Sofie F M Broeckx, Bart J G |
description | Clinical, pathological, and genetic findings of a primary hereditary ataxia found in a Malinois dog family are described and compared with its human counterpart. Based on the family history and the phenotype/genotype relationships already described in humans and dogs, a causal variant was expected to be found in KCNJ10. Rather surprisingly, whole-exome sequencing identified the SLC12A6 NC_006612.3(XM_014109414.2): c.178_181delinsCATCTCACTCAT (p.(Met60Hisfs*14)) truncating variant. This loss-of-function variant perfectly segregated within the affected Malinois family in an autosomal recessive way and was not found in 562 additional reference dogs from 18 different breeds, including Malinois. In humans, SLC12A6 variants cause "agenesis of the corpus callosum with peripheral neuropathy" (ACCPN, alias Andermann syndrome), owing to a dysfunction of this K
-Cl
cotransporter. However, depending on the variant (including truncating variants), different clinical features are observed within ACCPN. The variant in dogs encodes the shortest isoform described so far and its resultant phenotype is quite different from humans, as no signs of peripheral neuropathy, agenesis of the corpus callosum nor obvious mental retardation have been observed in dogs. On the other hand, progressive spinocerebellar ataxia, which is the most important feature of the canine phenotype, hindlimb paresis, and myokymia-like muscle contractions have not been described in humans with ACCPN so far. As this is the first report of a naturally occurring disease-causing SLC12A6 variant in a non-human species, the canine model will be highly valuable to better understand the complex molecular pathophysiology of SLC12A6-related neurological disorders and to evaluate novel treatment strategies. |
doi_str_mv | 10.1038/s41431-019-0432-3 |
format | article |
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-Cl
cotransporter. However, depending on the variant (including truncating variants), different clinical features are observed within ACCPN. The variant in dogs encodes the shortest isoform described so far and its resultant phenotype is quite different from humans, as no signs of peripheral neuropathy, agenesis of the corpus callosum nor obvious mental retardation have been observed in dogs. On the other hand, progressive spinocerebellar ataxia, which is the most important feature of the canine phenotype, hindlimb paresis, and myokymia-like muscle contractions have not been described in humans with ACCPN so far. As this is the first report of a naturally occurring disease-causing SLC12A6 variant in a non-human species, the canine model will be highly valuable to better understand the complex molecular pathophysiology of SLC12A6-related neurological disorders and to evaluate novel treatment strategies.</description><identifier>ISSN: 1018-4813</identifier><identifier>EISSN: 1476-5438</identifier><identifier>DOI: 10.1038/s41431-019-0432-3</identifier><identifier>PMID: 31160700</identifier><language>eng</language><publisher>England: Nature Publishing Group</publisher><subject>Animals ; Ataxia ; Biomarkers ; Corpus callosum ; Dogs ; Electromyography ; Female ; Genetic Association Studies - methods ; Genetic Predisposition to Disease ; Genetic Testing ; Genetic Variation ; Genotype & phenotype ; Genotypes ; Humans ; INDEL Mutation ; Male ; Muscle contraction ; Neural Conduction ; Neurological diseases ; Paresis ; Peripheral neuropathy ; Phenotype ; Phenotypes ; Spinocerebellar Degenerations - diagnosis ; Spinocerebellar Degenerations - genetics ; Spinocerebellar Degenerations - metabolism ; Symporters - genetics</subject><ispartof>European journal of human genetics : EJHG, 2019-10, Vol.27 (10), p.1561-1568</ispartof><rights>European Society of Human Genetics 2019.</rights><rights>European Society of Human Genetics 2019</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c427t-ba759d87b1d214d7a6661d371b62b43ef3368d257e9e04f14928e689659aae373</citedby><cites>FETCH-LOGICAL-c427t-ba759d87b1d214d7a6661d371b62b43ef3368d257e9e04f14928e689659aae373</cites><orcidid>0000-0001-6742-3911 ; 0000-0001-8815-5485 ; 0000-0002-0635-661X</orcidid></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC6777613/pdf/$$EPDF$$P50$$Gpubmedcentral$$H</linktopdf><linktohtml>$$Uhttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC6777613/$$EHTML$$P50$$Gpubmedcentral$$H</linktohtml><link.rule.ids>230,314,727,780,784,885,27924,27925,53791,53793</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/31160700$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Van Poucke, Mario</creatorcontrib><creatorcontrib>Stee, Kimberley</creatorcontrib><creatorcontrib>Sonck, Laurien</creatorcontrib><creatorcontrib>Stock, Emmelie</creatorcontrib><creatorcontrib>Bosseler, Leslie</creatorcontrib><creatorcontrib>Van Dorpe, Jo</creatorcontrib><creatorcontrib>Van Nieuwerburgh, Filip</creatorcontrib><creatorcontrib>Deforce, Dieter</creatorcontrib><creatorcontrib>Peelman, Luc J</creatorcontrib><creatorcontrib>Van Ham, Luc</creatorcontrib><creatorcontrib>Bhatti, Sofie F M</creatorcontrib><creatorcontrib>Broeckx, Bart J G</creatorcontrib><title>Truncating SLC12A6 variants cause different clinical phenotypes in humans and dogs</title><title>European journal of human genetics : EJHG</title><addtitle>Eur J Hum Genet</addtitle><description>Clinical, pathological, and genetic findings of a primary hereditary ataxia found in a Malinois dog family are described and compared with its human counterpart. Based on the family history and the phenotype/genotype relationships already described in humans and dogs, a causal variant was expected to be found in KCNJ10. Rather surprisingly, whole-exome sequencing identified the SLC12A6 NC_006612.3(XM_014109414.2): c.178_181delinsCATCTCACTCAT (p.(Met60Hisfs*14)) truncating variant. This loss-of-function variant perfectly segregated within the affected Malinois family in an autosomal recessive way and was not found in 562 additional reference dogs from 18 different breeds, including Malinois. In humans, SLC12A6 variants cause "agenesis of the corpus callosum with peripheral neuropathy" (ACCPN, alias Andermann syndrome), owing to a dysfunction of this K
-Cl
cotransporter. However, depending on the variant (including truncating variants), different clinical features are observed within ACCPN. The variant in dogs encodes the shortest isoform described so far and its resultant phenotype is quite different from humans, as no signs of peripheral neuropathy, agenesis of the corpus callosum nor obvious mental retardation have been observed in dogs. On the other hand, progressive spinocerebellar ataxia, which is the most important feature of the canine phenotype, hindlimb paresis, and myokymia-like muscle contractions have not been described in humans with ACCPN so far. As this is the first report of a naturally occurring disease-causing SLC12A6 variant in a non-human species, the canine model will be highly valuable to better understand the complex molecular pathophysiology of SLC12A6-related neurological disorders and to evaluate novel treatment strategies.</description><subject>Animals</subject><subject>Ataxia</subject><subject>Biomarkers</subject><subject>Corpus callosum</subject><subject>Dogs</subject><subject>Electromyography</subject><subject>Female</subject><subject>Genetic Association Studies - methods</subject><subject>Genetic Predisposition to Disease</subject><subject>Genetic Testing</subject><subject>Genetic Variation</subject><subject>Genotype & phenotype</subject><subject>Genotypes</subject><subject>Humans</subject><subject>INDEL Mutation</subject><subject>Male</subject><subject>Muscle contraction</subject><subject>Neural Conduction</subject><subject>Neurological diseases</subject><subject>Paresis</subject><subject>Peripheral neuropathy</subject><subject>Phenotype</subject><subject>Phenotypes</subject><subject>Spinocerebellar Degenerations - diagnosis</subject><subject>Spinocerebellar Degenerations - genetics</subject><subject>Spinocerebellar Degenerations - metabolism</subject><subject>Symporters - genetics</subject><issn>1018-4813</issn><issn>1476-5438</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2019</creationdate><recordtype>article</recordtype><recordid>eNpVkU9LAzEQxYMoVqsfwIsEPK9mkmySvQil-A8KgtZzyG6ybUqbrcluod_eLa1FTzMwb9485ofQDZB7IEw9JA6cQUagyAhnNGMn6AK4FFnOmTrtewIq4wrYAF2mtCCkH0o4RwMGIIgk5AJ9TGMXKtP6MMOfkzHQkcAbE70JbcKV6ZLD1te1iy60uFr64CuzxOu5C027XbuEfcDzbmVCwiZYbJtZukJntVkmd32oQ_T1_DQdv2aT95e38WiSVZzKNiuNzAurZAmWArfSCCHAMgmloCVnrmZMKEtz6QpHeA28oMoJVYi8MMYxyYboce-77sqVs1WfMJqlXke_MnGrG-P1_0nwcz1rNlpIKQWw3uDuYBCb786lVi-aLoY-s6ZUKSFzkHmvgr2qik1K0dXHC0D0DoPeY9A9Br3DoHfOt3-jHTd-_85-AOA2gt8</recordid><startdate>20191001</startdate><enddate>20191001</enddate><creator>Van Poucke, Mario</creator><creator>Stee, Kimberley</creator><creator>Sonck, Laurien</creator><creator>Stock, Emmelie</creator><creator>Bosseler, Leslie</creator><creator>Van Dorpe, Jo</creator><creator>Van Nieuwerburgh, Filip</creator><creator>Deforce, Dieter</creator><creator>Peelman, Luc J</creator><creator>Van Ham, Luc</creator><creator>Bhatti, Sofie F M</creator><creator>Broeckx, Bart J G</creator><general>Nature Publishing Group</general><general>Springer International Publishing</general><scope>CGR</scope><scope>CUY</scope><scope>CVF</scope><scope>ECM</scope><scope>EIF</scope><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>PRINS</scope><scope>RC3</scope><scope>5PM</scope><orcidid>https://orcid.org/0000-0001-6742-3911</orcidid><orcidid>https://orcid.org/0000-0001-8815-5485</orcidid><orcidid>https://orcid.org/0000-0002-0635-661X</orcidid></search><sort><creationdate>20191001</creationdate><title>Truncating SLC12A6 variants cause different clinical phenotypes in humans and dogs</title><author>Van Poucke, Mario ; Stee, Kimberley ; Sonck, Laurien ; Stock, Emmelie ; Bosseler, Leslie ; Van Dorpe, Jo ; Van Nieuwerburgh, Filip ; Deforce, Dieter ; Peelman, Luc J ; Van Ham, Luc ; Bhatti, Sofie F M ; Broeckx, Bart J G</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c427t-ba759d87b1d214d7a6661d371b62b43ef3368d257e9e04f14928e689659aae373</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2019</creationdate><topic>Animals</topic><topic>Ataxia</topic><topic>Biomarkers</topic><topic>Corpus callosum</topic><topic>Dogs</topic><topic>Electromyography</topic><topic>Female</topic><topic>Genetic Association Studies - methods</topic><topic>Genetic Predisposition to Disease</topic><topic>Genetic Testing</topic><topic>Genetic Variation</topic><topic>Genotype & phenotype</topic><topic>Genotypes</topic><topic>Humans</topic><topic>INDEL Mutation</topic><topic>Male</topic><topic>Muscle contraction</topic><topic>Neural Conduction</topic><topic>Neurological diseases</topic><topic>Paresis</topic><topic>Peripheral neuropathy</topic><topic>Phenotype</topic><topic>Phenotypes</topic><topic>Spinocerebellar Degenerations - diagnosis</topic><topic>Spinocerebellar Degenerations - genetics</topic><topic>Spinocerebellar Degenerations - metabolism</topic><topic>Symporters - genetics</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Van Poucke, Mario</creatorcontrib><creatorcontrib>Stee, Kimberley</creatorcontrib><creatorcontrib>Sonck, Laurien</creatorcontrib><creatorcontrib>Stock, Emmelie</creatorcontrib><creatorcontrib>Bosseler, Leslie</creatorcontrib><creatorcontrib>Van Dorpe, Jo</creatorcontrib><creatorcontrib>Van Nieuwerburgh, Filip</creatorcontrib><creatorcontrib>Deforce, Dieter</creatorcontrib><creatorcontrib>Peelman, Luc J</creatorcontrib><creatorcontrib>Van Ham, Luc</creatorcontrib><creatorcontrib>Bhatti, Sofie F M</creatorcontrib><creatorcontrib>Broeckx, Bart J G</creatorcontrib><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>ProQuest Central (Corporate)</collection><collection>ProQuest Health and Medical</collection><collection>ProQuest Central (purchase pre-March 2016)</collection><collection>Biology Database (Alumni Edition)</collection><collection>Medical Database (Alumni Edition)</collection><collection>ProQuest Pharma Collection</collection><collection>Technology Research Database</collection><collection>ProQuest SciTech Collection</collection><collection>ProQuest Natural Science Collection</collection><collection>Hospital Premium Collection</collection><collection>Hospital Premium Collection (Alumni Edition)</collection><collection>ProQuest Central (Alumni) (purchase pre-March 2016)</collection><collection>ProQuest Central (Alumni)</collection><collection>ProQuest Central</collection><collection>ProQuest Central Essentials</collection><collection>Biological Science Collection</collection><collection>ProQuest Central</collection><collection>ProQuest Natural Science Collection</collection><collection>ProQuest One Community College</collection><collection>ProQuest Central</collection><collection>Engineering Research Database</collection><collection>Health Research Premium Collection</collection><collection>Health Research Premium Collection (Alumni)</collection><collection>ProQuest Central Student</collection><collection>SciTech Premium Collection</collection><collection>ProQuest Health & Medical Complete (Alumni)</collection><collection>ProQuest Biological Science Collection</collection><collection>Health & Medical Collection (Alumni Edition)</collection><collection>PML(ProQuest Medical Library)</collection><collection>Biological Science Database</collection><collection>Biotechnology and BioEngineering Abstracts</collection><collection>ProQuest One Academic Eastern Edition (DO NOT USE)</collection><collection>ProQuest One Academic</collection><collection>ProQuest One Academic UKI Edition</collection><collection>ProQuest Central China</collection><collection>Genetics Abstracts</collection><collection>PubMed Central (Full Participant titles)</collection><jtitle>European journal of human genetics : EJHG</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Van Poucke, Mario</au><au>Stee, Kimberley</au><au>Sonck, Laurien</au><au>Stock, Emmelie</au><au>Bosseler, Leslie</au><au>Van Dorpe, Jo</au><au>Van Nieuwerburgh, Filip</au><au>Deforce, Dieter</au><au>Peelman, Luc J</au><au>Van Ham, Luc</au><au>Bhatti, Sofie F M</au><au>Broeckx, Bart J G</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Truncating SLC12A6 variants cause different clinical phenotypes in humans and dogs</atitle><jtitle>European journal of human genetics : EJHG</jtitle><addtitle>Eur J Hum Genet</addtitle><date>2019-10-01</date><risdate>2019</risdate><volume>27</volume><issue>10</issue><spage>1561</spage><epage>1568</epage><pages>1561-1568</pages><issn>1018-4813</issn><eissn>1476-5438</eissn><abstract>Clinical, pathological, and genetic findings of a primary hereditary ataxia found in a Malinois dog family are described and compared with its human counterpart. Based on the family history and the phenotype/genotype relationships already described in humans and dogs, a causal variant was expected to be found in KCNJ10. Rather surprisingly, whole-exome sequencing identified the SLC12A6 NC_006612.3(XM_014109414.2): c.178_181delinsCATCTCACTCAT (p.(Met60Hisfs*14)) truncating variant. This loss-of-function variant perfectly segregated within the affected Malinois family in an autosomal recessive way and was not found in 562 additional reference dogs from 18 different breeds, including Malinois. In humans, SLC12A6 variants cause "agenesis of the corpus callosum with peripheral neuropathy" (ACCPN, alias Andermann syndrome), owing to a dysfunction of this K
-Cl
cotransporter. However, depending on the variant (including truncating variants), different clinical features are observed within ACCPN. The variant in dogs encodes the shortest isoform described so far and its resultant phenotype is quite different from humans, as no signs of peripheral neuropathy, agenesis of the corpus callosum nor obvious mental retardation have been observed in dogs. On the other hand, progressive spinocerebellar ataxia, which is the most important feature of the canine phenotype, hindlimb paresis, and myokymia-like muscle contractions have not been described in humans with ACCPN so far. As this is the first report of a naturally occurring disease-causing SLC12A6 variant in a non-human species, the canine model will be highly valuable to better understand the complex molecular pathophysiology of SLC12A6-related neurological disorders and to evaluate novel treatment strategies.</abstract><cop>England</cop><pub>Nature Publishing Group</pub><pmid>31160700</pmid><doi>10.1038/s41431-019-0432-3</doi><tpages>8</tpages><orcidid>https://orcid.org/0000-0001-6742-3911</orcidid><orcidid>https://orcid.org/0000-0001-8815-5485</orcidid><orcidid>https://orcid.org/0000-0002-0635-661X</orcidid><oa>free_for_read</oa></addata></record> |
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subjects | Animals Ataxia Biomarkers Corpus callosum Dogs Electromyography Female Genetic Association Studies - methods Genetic Predisposition to Disease Genetic Testing Genetic Variation Genotype & phenotype Genotypes Humans INDEL Mutation Male Muscle contraction Neural Conduction Neurological diseases Paresis Peripheral neuropathy Phenotype Phenotypes Spinocerebellar Degenerations - diagnosis Spinocerebellar Degenerations - genetics Spinocerebellar Degenerations - metabolism Symporters - genetics |
title | Truncating SLC12A6 variants cause different clinical phenotypes in humans and dogs |
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