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Conference Paper: Identifying the disease gene for a new locus of congenital myasthenic syndrome
Title | Identifying the disease gene for a new locus of congenital myasthenic syndrome |
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Authors | |
Issue Date | 2014 |
Citation | The 10th Annual International Conference of the Metabolomics Society, Tsuruoka, Japan, 23-26 June 2014. How to Cite? |
Abstract | AIMS OF STUDY: Currently, 17 disease genes of congenital myasthenic syndromes (CMS) have been identified. Here, we aim to determine the molecular basis of CMS in a consanguineous family with limb girdle type of CMS by microarray analysis. METHODS: DNA samples from two affected siblings (P1, P2) and unaffected father, mother and sisters (S1 and S2) will be analyzed using high-density single-nucleotide polymorphism (SNP) microarray (Affymetrix SNP 6.0). RESULTS: We determined a 21 MB absence of heterozygosity (AOH) region on chromosome 6q15-21 with high degree of allele sharing between P1 and P2. Intriguingly, another AOH region was found on chromosome 11p in all children (P1, P2, S1 and S2). DISCUSSIONS: RAPSN is the only disease gene of CMS located in the AOH region on chromosome 11p. We hypothesized all P1, P2, S1 and S2 may harbor the same homozygous disease-causing mutation in RAPSN gene. This mutation will be confirmed by Sanger sequencing. Furthermore, the disease phenotype in our patients may be determined by a novel disease-modifying gene located in the AOH region on chromosome 6q15-21. Thus, RAPSN-associated CMS is only manifested in P1 and P2 but not in S1 and S2. We will identify this novel gene by using whole exome sequencing. |
Persistent Identifier | http://hdl.handle.net/10722/213565 |
DC Field | Value | Language |
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dc.contributor.author | Lam, CW | - |
dc.contributor.author | Law, CY | - |
dc.date.accessioned | 2015-08-05T08:34:53Z | - |
dc.date.available | 2015-08-05T08:34:53Z | - |
dc.date.issued | 2014 | - |
dc.identifier.citation | The 10th Annual International Conference of the Metabolomics Society, Tsuruoka, Japan, 23-26 June 2014. | - |
dc.identifier.uri | http://hdl.handle.net/10722/213565 | - |
dc.description.abstract | AIMS OF STUDY: Currently, 17 disease genes of congenital myasthenic syndromes (CMS) have been identified. Here, we aim to determine the molecular basis of CMS in a consanguineous family with limb girdle type of CMS by microarray analysis. METHODS: DNA samples from two affected siblings (P1, P2) and unaffected father, mother and sisters (S1 and S2) will be analyzed using high-density single-nucleotide polymorphism (SNP) microarray (Affymetrix SNP 6.0). RESULTS: We determined a 21 MB absence of heterozygosity (AOH) region on chromosome 6q15-21 with high degree of allele sharing between P1 and P2. Intriguingly, another AOH region was found on chromosome 11p in all children (P1, P2, S1 and S2). DISCUSSIONS: RAPSN is the only disease gene of CMS located in the AOH region on chromosome 11p. We hypothesized all P1, P2, S1 and S2 may harbor the same homozygous disease-causing mutation in RAPSN gene. This mutation will be confirmed by Sanger sequencing. Furthermore, the disease phenotype in our patients may be determined by a novel disease-modifying gene located in the AOH region on chromosome 6q15-21. Thus, RAPSN-associated CMS is only manifested in P1 and P2 but not in S1 and S2. We will identify this novel gene by using whole exome sequencing. | - |
dc.language | eng | - |
dc.relation.ispartof | Annual International Conference of the Metabolomics Society | - |
dc.title | Identifying the disease gene for a new locus of congenital myasthenic syndrome | - |
dc.type | Conference_Paper | - |
dc.identifier.email | Lam, CW: ching-wanlam@pathology.hku.hk | - |
dc.identifier.email | Law, CY: ericlaw@pathology.hku.hk | - |
dc.identifier.authority | Lam, CW=rp00260 | - |
dc.identifier.authority | Law, CY=rp01586 | - |
dc.identifier.hkuros | 246610 | - |