Warburg micro syndrome type 1 associated with peripheral neuropathy and cardiomyopathy
The Warburg micro syndrome (WARBM) is a genetically heterogeneous syndrome linked to at least 4 loci. At the clinical level, WARBM is characterized by microcephaly, microphthalmia, microcornea, congenital cataracts, corpus callosum hypoplasia, severe mental retardation, and hypogonadism. In some fam...
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| Format: | Article |
| Language: | English |
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Termedia Publishing House
2016-10-01
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| Series: | Folia Neuropathologica |
| Subjects: | |
| Online Access: | https://www.termedia.pl/Warburg-micro-syndrome-type-1-associated-with-peripheral-neuropathy-and-cardiomyopathy,20,28390,1,1.html |
| _version_ | 1818951929896632320 |
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| author | Dagmara Kabzińska Hanna Mierzewska Jan Senderek Andrzej Kochański |
| author_facet | Dagmara Kabzińska Hanna Mierzewska Jan Senderek Andrzej Kochański |
| author_sort | Dagmara Kabzińska |
| collection | DOAJ |
| description | The Warburg micro syndrome (WARBM) is a genetically heterogeneous syndrome linked to at least 4 loci. At the clinical level, WARBM is characterized by microcephaly, microphthalmia, microcornea, congenital cataracts, corpus callosum hypoplasia, severe mental retardation, and hypogonadism. In some families additional clinical features have been reported. The presence of uncommon clinical features (peripheral neuropathy, cardiomyopathy) may result in misdirected molecular diagnostics. Using the next generation sequencing approach (NGS), we were able to diagnose WARBM1 syndrome by detection of a new mutation within the RAB3GAP1 gene. We have detected some DNA variants which may be responsible for cardiomyopathy. We did not find any obvious pathogenic mutation within a set of genes known to be responsible for hereditary motor and sensory neuropathy (HMSN). We conclude that: (i) in clinically delineated syndromes, a classical single-gene oriented approach may be not conclusive especially in the presence of rare clinical features, (ii) peripheral neuropathy and cardiomyopathy are rare additional symptoms coexisting with WARBM1, (iii) a pleiotropic effect of a single point mutation is sufficient to be causative for WARBM1 and (iv) more WARBM-affected patients should be reported to delineate a complete phenotype. |
| first_indexed | 2024-12-20T09:42:18Z |
| format | Article |
| id | doaj.art-3ad6252d3be74703a32931313006b46b |
| institution | Directory Open Access Journal |
| issn | 1641-4640 1509-572X |
| language | English |
| last_indexed | 2024-12-20T09:42:18Z |
| publishDate | 2016-10-01 |
| publisher | Termedia Publishing House |
| record_format | Article |
| series | Folia Neuropathologica |
| spelling | doaj.art-3ad6252d3be74703a32931313006b46b2022-12-21T19:44:51ZengTermedia Publishing HouseFolia Neuropathologica1641-46401509-572X2016-10-0154327328110.5114/fn.2016.6253728390Warburg micro syndrome type 1 associated with peripheral neuropathy and cardiomyopathyDagmara KabzińskaHanna MierzewskaJan SenderekAndrzej KochańskiThe Warburg micro syndrome (WARBM) is a genetically heterogeneous syndrome linked to at least 4 loci. At the clinical level, WARBM is characterized by microcephaly, microphthalmia, microcornea, congenital cataracts, corpus callosum hypoplasia, severe mental retardation, and hypogonadism. In some families additional clinical features have been reported. The presence of uncommon clinical features (peripheral neuropathy, cardiomyopathy) may result in misdirected molecular diagnostics. Using the next generation sequencing approach (NGS), we were able to diagnose WARBM1 syndrome by detection of a new mutation within the RAB3GAP1 gene. We have detected some DNA variants which may be responsible for cardiomyopathy. We did not find any obvious pathogenic mutation within a set of genes known to be responsible for hereditary motor and sensory neuropathy (HMSN). We conclude that: (i) in clinically delineated syndromes, a classical single-gene oriented approach may be not conclusive especially in the presence of rare clinical features, (ii) peripheral neuropathy and cardiomyopathy are rare additional symptoms coexisting with WARBM1, (iii) a pleiotropic effect of a single point mutation is sufficient to be causative for WARBM1 and (iv) more WARBM-affected patients should be reported to delineate a complete phenotype.https://www.termedia.pl/Warburg-micro-syndrome-type-1-associated-with-peripheral-neuropathy-and-cardiomyopathy,20,28390,1,1.htmlWarburg syndrome whole-exome sequencing RAB3GAP1 |
| spellingShingle | Dagmara Kabzińska Hanna Mierzewska Jan Senderek Andrzej Kochański Warburg micro syndrome type 1 associated with peripheral neuropathy and cardiomyopathy Folia Neuropathologica Warburg syndrome whole-exome sequencing RAB3GAP1 |
| title | Warburg micro syndrome type 1 associated with peripheral neuropathy and cardiomyopathy |
| title_full | Warburg micro syndrome type 1 associated with peripheral neuropathy and cardiomyopathy |
| title_fullStr | Warburg micro syndrome type 1 associated with peripheral neuropathy and cardiomyopathy |
| title_full_unstemmed | Warburg micro syndrome type 1 associated with peripheral neuropathy and cardiomyopathy |
| title_short | Warburg micro syndrome type 1 associated with peripheral neuropathy and cardiomyopathy |
| title_sort | warburg micro syndrome type 1 associated with peripheral neuropathy and cardiomyopathy |
| topic | Warburg syndrome whole-exome sequencing RAB3GAP1 |
| url | https://www.termedia.pl/Warburg-micro-syndrome-type-1-associated-with-peripheral-neuropathy-and-cardiomyopathy,20,28390,1,1.html |
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