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A Review of Genetic Counseling for Charcot Marie Tooth Disease (CMT)
Charcot Marie Tooth disease (CMT) encompasses the inherited peripheral neuropathies. While four genes have been found to cause over 90 % of genetically identifiable causes of CMT ( PMP22, GJB1, MPZ, MFN2 ), at least 51 genes and loci have been found to cause CMT when mutated, creating difficulties f...
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| Published in: | Journal of genetic counseling 2013-08, Vol.22 (4), p.422-436 |
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| Main Authors: | , , , , , , |
| Format: | Article |
| Language: | English |
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| cites | cdi_FETCH-LOGICAL-c5522-b157dc6db491c6119d46c5d240dd9268f2389ce056521832a82b7c662d58672b3 |
| container_end_page | 436 |
| container_issue | 4 |
| container_start_page | 422 |
| container_title | Journal of genetic counseling |
| container_volume | 22 |
| creator | Siskind, Carly E. Panchal, Seema Smith, Corrine O. Feely, Shawna M. E. Dalton, Joline C. Schindler, Alice B. Krajewski, Karen M. |
| description | Charcot Marie Tooth disease (CMT) encompasses the inherited peripheral neuropathies. While four genes have been found to cause over 90 % of genetically identifiable causes of CMT (
PMP22, GJB1, MPZ, MFN2
), at least 51 genes and loci have been found to cause CMT when mutated, creating difficulties for clinicians to find a genetic subtype for families. Here, the classic features of CMT as well as characteristic features of the most common subtypes of CMT are described, as well as methods for narrowing down the possible subtypes. Psychosocial concerns particular to the CMT population are identified. This is the most inclusive publication for CMT-specific genetic counseling. |
| doi_str_mv | 10.1007/s10897-013-9584-4 |
| format | article |
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PMP22, GJB1, MPZ, MFN2
), at least 51 genes and loci have been found to cause CMT when mutated, creating difficulties for clinicians to find a genetic subtype for families. Here, the classic features of CMT as well as characteristic features of the most common subtypes of CMT are described, as well as methods for narrowing down the possible subtypes. Psychosocial concerns particular to the CMT population are identified. This is the most inclusive publication for CMT-specific genetic counseling.</description><identifier>ISSN: 1059-7700</identifier><identifier>EISSN: 1573-3599</identifier><identifier>DOI: 10.1007/s10897-013-9584-4</identifier><identifier>PMID: 23604902</identifier><identifier>CODEN: JGCOET</identifier><language>eng</language><publisher>Boston: Springer US</publisher><subject>Biomedical and Life Sciences ; Biomedicine ; Charcot Marie Tooth disease ; Charcot-Marie-Tooth Disease - genetics ; Charcot-Marie-Tooth Disease - therapy ; Clinical Psychology ; CMT ; Disease ; Ethical concerns ; Ethics ; Genes ; Genetic Counseling ; Genetic counselling ; Genetic subtypes ; Gynecology ; Hereditary motor and sensory neuropathy ; Human Genetics ; Humans ; Oral hygiene ; Peripheral neuropathy ; Point Mutation ; Psychosocial concerns ; Psychosocial factors ; Public Health ; Review Article ; Subtypes ; Teeth</subject><ispartof>Journal of genetic counseling, 2013-08, Vol.22 (4), p.422-436</ispartof><rights>National Society of Genetic Counselors, Inc. 2013</rights><rights>2013 National Society of Genetic Counselors, Inc.</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c5522-b157dc6db491c6119d46c5d240dd9268f2389ce056521832a82b7c662d58672b3</citedby><cites>FETCH-LOGICAL-c5522-b157dc6db491c6119d46c5d240dd9268f2389ce056521832a82b7c662d58672b3</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktohtml>$$Uhttps://www.proquest.com/docview/1373396242?pq-origsite=primo$$EHTML$$P50$$Gproquest$$H</linktohtml><link.rule.ids>314,780,784,12846,21394,21395,27924,27925,30999,31000,33611,33612,34530,34531,43733,44115</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/23604902$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Siskind, Carly E.</creatorcontrib><creatorcontrib>Panchal, Seema</creatorcontrib><creatorcontrib>Smith, Corrine O.</creatorcontrib><creatorcontrib>Feely, Shawna M. E.</creatorcontrib><creatorcontrib>Dalton, Joline C.</creatorcontrib><creatorcontrib>Schindler, Alice B.</creatorcontrib><creatorcontrib>Krajewski, Karen M.</creatorcontrib><title>A Review of Genetic Counseling for Charcot Marie Tooth Disease (CMT)</title><title>Journal of genetic counseling</title><addtitle>J Genet Counsel</addtitle><addtitle>J Genet Couns</addtitle><description>Charcot Marie Tooth disease (CMT) encompasses the inherited peripheral neuropathies. While four genes have been found to cause over 90 % of genetically identifiable causes of CMT (
PMP22, GJB1, MPZ, MFN2
), at least 51 genes and loci have been found to cause CMT when mutated, creating difficulties for clinicians to find a genetic subtype for families. Here, the classic features of CMT as well as characteristic features of the most common subtypes of CMT are described, as well as methods for narrowing down the possible subtypes. Psychosocial concerns particular to the CMT population are identified. 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E. ; Dalton, Joline C. ; Schindler, Alice B. ; Krajewski, Karen M.</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c5522-b157dc6db491c6119d46c5d240dd9268f2389ce056521832a82b7c662d58672b3</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2013</creationdate><topic>Biomedical and Life Sciences</topic><topic>Biomedicine</topic><topic>Charcot Marie Tooth disease</topic><topic>Charcot-Marie-Tooth Disease - genetics</topic><topic>Charcot-Marie-Tooth Disease - therapy</topic><topic>Clinical Psychology</topic><topic>CMT</topic><topic>Disease</topic><topic>Ethical concerns</topic><topic>Ethics</topic><topic>Genes</topic><topic>Genetic Counseling</topic><topic>Genetic counselling</topic><topic>Genetic subtypes</topic><topic>Gynecology</topic><topic>Hereditary motor and sensory neuropathy</topic><topic>Human Genetics</topic><topic>Humans</topic><topic>Oral hygiene</topic><topic>Peripheral neuropathy</topic><topic>Point Mutation</topic><topic>Psychosocial concerns</topic><topic>Psychosocial factors</topic><topic>Public Health</topic><topic>Review Article</topic><topic>Subtypes</topic><topic>Teeth</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Siskind, Carly E.</creatorcontrib><creatorcontrib>Panchal, Seema</creatorcontrib><creatorcontrib>Smith, Corrine O.</creatorcontrib><creatorcontrib>Feely, Shawna M. 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PMP22, GJB1, MPZ, MFN2
), at least 51 genes and loci have been found to cause CMT when mutated, creating difficulties for clinicians to find a genetic subtype for families. Here, the classic features of CMT as well as characteristic features of the most common subtypes of CMT are described, as well as methods for narrowing down the possible subtypes. Psychosocial concerns particular to the CMT population are identified. This is the most inclusive publication for CMT-specific genetic counseling.</abstract><cop>Boston</cop><pub>Springer US</pub><pmid>23604902</pmid><doi>10.1007/s10897-013-9584-4</doi><tpages>15</tpages></addata></record> |
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| identifier | ISSN: 1059-7700 |
| ispartof | Journal of genetic counseling, 2013-08, Vol.22 (4), p.422-436 |
| issn | 1059-7700 1573-3599 |
| language | eng |
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| source | Applied Social Sciences Index & Abstracts (ASSIA); Social Science Premium Collection; Wiley-Blackwell Read & Publish Collection; Sociology Collection |
| subjects | Biomedical and Life Sciences Biomedicine Charcot Marie Tooth disease Charcot-Marie-Tooth Disease - genetics Charcot-Marie-Tooth Disease - therapy Clinical Psychology CMT Disease Ethical concerns Ethics Genes Genetic Counseling Genetic counselling Genetic subtypes Gynecology Hereditary motor and sensory neuropathy Human Genetics Humans Oral hygiene Peripheral neuropathy Point Mutation Psychosocial concerns Psychosocial factors Public Health Review Article Subtypes Teeth |
| title | A Review of Genetic Counseling for Charcot Marie Tooth Disease (CMT) |
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