A Costa Rican family affected with Charcot-Marie-Tooth disease due to the myelin protein zero (MPZ) p.Thr124Met mutation shares the Belgian haplotype
The p.Thr124Met mutation in the myelin protein zero (MPZ) causes the Charcot-Marie-Tooth disease type 2J, a peripheral neuropathy with additional symptoms as pupillary alterations and deafness. It was observed in several families around the world originating e. g. from Germany, Belgium, Japan, Italy...
| Main Authors: | , , , , , , , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
Universidad de Costa Rica
2014-12-01
|
| Series: | Revista de Biología Tropical |
| Subjects: | |
| Online Access: | http://www.scielo.sa.cr/scielo.php?script=sci_arttext&pid=S0034-77442014000400003&lng=en&tlng=en |
| _version_ | 1827162503021330432 |
|---|---|
| author | Alejandro Leal Corinna Berghoff Martin Berghoff Melissa Rojas-Araya Carolina Ortiz Dieter Heuss Gerardo Del Valle Bernd Rautenstrauss |
| author_facet | Alejandro Leal Corinna Berghoff Martin Berghoff Melissa Rojas-Araya Carolina Ortiz Dieter Heuss Gerardo Del Valle Bernd Rautenstrauss |
| author_sort | Alejandro Leal |
| collection | DOAJ |
| description | The p.Thr124Met mutation in the myelin protein zero (MPZ) causes the Charcot-Marie-Tooth disease type 2J, a peripheral neuropathy with additional symptoms as pupillary alterations and deafness. It was observed in several families around the world originating e. g. from Germany, Belgium, Japan, Italy and North America. Here we report Central American patients originating from a family in Costa Rica carrying this mutation. Clinical, electrophysiological and molecular analysis of patients and controls were performed, including gene and linked markers´ sequencing. Carriers share almost the entire haplotype with two non related Belgian CMT patients. As a result of the haplotype analysis, based on ten markers (seven SNPs, two microsatellites and an intronic polyA stretch), the founder effect hypothesis for this allele migration is suggestive. Rev. Biol. Trop. 62 (4): 1285-1293. Epub 2014 December 01. |
| first_indexed | 2024-03-12T06:31:29Z |
| format | Article |
| id | doaj.art-d65362ac3251457886da6983f568561d |
| institution | Directory Open Access Journal |
| issn | 0034-7744 |
| language | English |
| last_indexed | 2025-03-21T00:45:51Z |
| publishDate | 2014-12-01 |
| publisher | Universidad de Costa Rica |
| record_format | Article |
| series | Revista de Biología Tropical |
| spelling | doaj.art-d65362ac3251457886da6983f568561d2024-08-03T05:55:34ZengUniversidad de Costa RicaRevista de Biología Tropical0034-77442014-12-0162412851293S0034-77442014000400003A Costa Rican family affected with Charcot-Marie-Tooth disease due to the myelin protein zero (MPZ) p.Thr124Met mutation shares the Belgian haplotypeAlejandro LealCorinna BerghoffMartin BerghoffMelissa Rojas-ArayaCarolina OrtizDieter HeussGerardo Del ValleBernd RautenstraussThe p.Thr124Met mutation in the myelin protein zero (MPZ) causes the Charcot-Marie-Tooth disease type 2J, a peripheral neuropathy with additional symptoms as pupillary alterations and deafness. It was observed in several families around the world originating e. g. from Germany, Belgium, Japan, Italy and North America. Here we report Central American patients originating from a family in Costa Rica carrying this mutation. Clinical, electrophysiological and molecular analysis of patients and controls were performed, including gene and linked markers´ sequencing. Carriers share almost the entire haplotype with two non related Belgian CMT patients. As a result of the haplotype analysis, based on ten markers (seven SNPs, two microsatellites and an intronic polyA stretch), the founder effect hypothesis for this allele migration is suggestive. Rev. Biol. Trop. 62 (4): 1285-1293. Epub 2014 December 01.http://www.scielo.sa.cr/scielo.php?script=sci_arttext&pid=S0034-77442014000400003&lng=en&tlng=enCharcot-Marie-Toothneuropatía periféricaProteína Mielina CeromutaciónCosta Rica |
| spellingShingle | Alejandro Leal Corinna Berghoff Martin Berghoff Melissa Rojas-Araya Carolina Ortiz Dieter Heuss Gerardo Del Valle Bernd Rautenstrauss A Costa Rican family affected with Charcot-Marie-Tooth disease due to the myelin protein zero (MPZ) p.Thr124Met mutation shares the Belgian haplotype Revista de Biología Tropical Charcot-Marie-Tooth neuropatía periférica Proteína Mielina Cero mutación Costa Rica |
| title | A Costa Rican family affected with Charcot-Marie-Tooth disease due to the myelin protein zero (MPZ) p.Thr124Met mutation shares the Belgian haplotype |
| title_full | A Costa Rican family affected with Charcot-Marie-Tooth disease due to the myelin protein zero (MPZ) p.Thr124Met mutation shares the Belgian haplotype |
| title_fullStr | A Costa Rican family affected with Charcot-Marie-Tooth disease due to the myelin protein zero (MPZ) p.Thr124Met mutation shares the Belgian haplotype |
| title_full_unstemmed | A Costa Rican family affected with Charcot-Marie-Tooth disease due to the myelin protein zero (MPZ) p.Thr124Met mutation shares the Belgian haplotype |
| title_short | A Costa Rican family affected with Charcot-Marie-Tooth disease due to the myelin protein zero (MPZ) p.Thr124Met mutation shares the Belgian haplotype |
| title_sort | costa rican family affected with charcot marie tooth disease due to the myelin protein zero mpz p thr124met mutation shares the belgian haplotype |
| topic | Charcot-Marie-Tooth neuropatía periférica Proteína Mielina Cero mutación Costa Rica |
| url | http://www.scielo.sa.cr/scielo.php?script=sci_arttext&pid=S0034-77442014000400003&lng=en&tlng=en |
| work_keys_str_mv | AT alejandroleal acostaricanfamilyaffectedwithcharcotmarietoothdiseaseduetothemyelinproteinzerompzpthr124metmutationsharesthebelgianhaplotype AT corinnaberghoff acostaricanfamilyaffectedwithcharcotmarietoothdiseaseduetothemyelinproteinzerompzpthr124metmutationsharesthebelgianhaplotype AT martinberghoff acostaricanfamilyaffectedwithcharcotmarietoothdiseaseduetothemyelinproteinzerompzpthr124metmutationsharesthebelgianhaplotype AT melissarojasaraya acostaricanfamilyaffectedwithcharcotmarietoothdiseaseduetothemyelinproteinzerompzpthr124metmutationsharesthebelgianhaplotype AT carolinaortiz acostaricanfamilyaffectedwithcharcotmarietoothdiseaseduetothemyelinproteinzerompzpthr124metmutationsharesthebelgianhaplotype AT dieterheuss acostaricanfamilyaffectedwithcharcotmarietoothdiseaseduetothemyelinproteinzerompzpthr124metmutationsharesthebelgianhaplotype AT gerardodelvalle acostaricanfamilyaffectedwithcharcotmarietoothdiseaseduetothemyelinproteinzerompzpthr124metmutationsharesthebelgianhaplotype AT berndrautenstrauss acostaricanfamilyaffectedwithcharcotmarietoothdiseaseduetothemyelinproteinzerompzpthr124metmutationsharesthebelgianhaplotype AT alejandroleal costaricanfamilyaffectedwithcharcotmarietoothdiseaseduetothemyelinproteinzerompzpthr124metmutationsharesthebelgianhaplotype AT corinnaberghoff costaricanfamilyaffectedwithcharcotmarietoothdiseaseduetothemyelinproteinzerompzpthr124metmutationsharesthebelgianhaplotype AT martinberghoff costaricanfamilyaffectedwithcharcotmarietoothdiseaseduetothemyelinproteinzerompzpthr124metmutationsharesthebelgianhaplotype AT melissarojasaraya costaricanfamilyaffectedwithcharcotmarietoothdiseaseduetothemyelinproteinzerompzpthr124metmutationsharesthebelgianhaplotype AT carolinaortiz costaricanfamilyaffectedwithcharcotmarietoothdiseaseduetothemyelinproteinzerompzpthr124metmutationsharesthebelgianhaplotype AT dieterheuss costaricanfamilyaffectedwithcharcotmarietoothdiseaseduetothemyelinproteinzerompzpthr124metmutationsharesthebelgianhaplotype AT gerardodelvalle costaricanfamilyaffectedwithcharcotmarietoothdiseaseduetothemyelinproteinzerompzpthr124metmutationsharesthebelgianhaplotype AT berndrautenstrauss costaricanfamilyaffectedwithcharcotmarietoothdiseaseduetothemyelinproteinzerompzpthr124metmutationsharesthebelgianhaplotype |