Pure monosomy and pure trisomy of 13q21.2–31.1 consequent to a familial insertional translocation: Exclusion of PCDH9 as the responsible gene for autosomal dominant auditory neuropathy (AUNA1)
dc.contributor.author | Grati, Francesca R. | en_US |
dc.contributor.author | Lesperance, Marci M. | en_US |
dc.contributor.author | De Toffol, Simona | en_US |
dc.contributor.author | Chinetti, Sara | en_US |
dc.contributor.author | Selicorni, Angelo | en_US |
dc.contributor.author | Emery, Sarah B. | en_US |
dc.contributor.author | Grimi, Beatrice | en_US |
dc.contributor.author | Dulcetti, Francesca | en_US |
dc.contributor.author | Malvestiti, Barbara | en_US |
dc.contributor.author | Taylor, Joseph | en_US |
dc.contributor.author | Milani, Silvia | en_US |
dc.contributor.author | Ruggeri, Anna M. | en_US |
dc.contributor.author | Maggi, Federico | en_US |
dc.contributor.author | Simoni, Giuseppe | en_US |
dc.date.accessioned | 2009-05-04T18:25:44Z | |
dc.date.available | 2010-07-06T14:30:31Z | en_US |
dc.date.issued | 2009-05 | en_US |
dc.identifier.citation | Grati, Francesca R.; Lesperance, Marci M.; De Toffol, Simona; Chinetti, Sara; Selicorni, Angelo; Emery, Sarah; Grimi, Beatrice; Dulcetti, Francesca; Malvestiti, Barbara; Taylor, Joseph; Milani, Silvia; Ruggeri, Anna M.; Maggi, Federico; Simoni, Giuseppe (2009). "Pure monosomy and pure trisomy of 13q21.2–31.1 consequent to a familial insertional translocation: Exclusion of PCDH9 as the responsible gene for autosomal dominant auditory neuropathy (AUNA1) How to Cite this Article: Grati FR, Lesperance MM, Toffol SD, Chinetti S, Selicorni A, Emery S, Grimi B, Dulcetti F, Malvestiti B, Taylor J, Milani S, Ruggeri AM, Maggi F, Simoni G. 2009. Pure monosomy and pure trisomy of 13q21.2–31.1 consequent to a familial insertional translocation: Exclusion of PCDH9 as the responsible gene for autosomal dominant auditory neuropathy (AUNA1). Am J Med Genet Part A 149A:906–913. ." American Journal of Medical Genetics Part A 149A(5): 906-913. <http://hdl.handle.net/2027.42/62136> | en_US |
dc.identifier.issn | 1552-4825 | en_US |
dc.identifier.issn | 1552-4833 | en_US |
dc.identifier.uri | https://hdl.handle.net/2027.42/62136 | |
dc.identifier.uri | http://www.ncbi.nlm.nih.gov/sites/entrez?cmd=retrieve&db=pubmed&list_uids=19353688&dopt=citation | en_US |
dc.description.abstract | Insertional translocations (IT) are rare structural rearrangements. Offspring of IT balanced carriers are at high risk to have either pure partial trisomy or monosomy for the inserted segment as manifested by “pure” phenotypes. We describe an IT between chromosomes 3 and 13 segregating in a three-generation pedigree. Short tandem repeat (STR) segregation analysis and array-comparative genomic hybridization were used to define the IT as a 25.1 Mb segment spanning 13q21.2–q31.1. The phenotype of pure monosomy included deafness, duodenal stenosis, developmental and growth delay, vertebral anomalies, and facial dysmorphisms; the trisomy was manifested by only minor dysmorphisms. As the AUNA1 deafness locus on 13q14-21 overlaps the IT in the PCDH9 (protocadherin-9) gene region, PCDH9 was investigated as a candidate gene for deafness in both families. Genotyping of STRs and single nucleotide polymorphisms defined the AUNA1 breakpoint as 35 kb 5′ to PCDH9 , with a 2.4 Mb area of overlap with the IT. DNA sequencing of coding regions in the AUNA1 family and in the retained homologue chromosome in the monosomic patient revealed no mutations. We conclude that AUNA1 deafness does not share a common etiology with deafness associated with monosomy 13q21.2–q31.3; deafness may result from monosomy of PCHD9 or another gene in the IT, as has been demonstrated in contiguous gene deletion syndromes. Precise characterization of the breakpoints of the translocated region is useful to identify which genes may be contributing to the phenotype, either through haploinsufficiency or extra dosage effects, in order to define genotype–phenotype correlations. © 2009 Wiley-Liss, Inc. | en_US |
dc.format.extent | 8415 bytes | |
dc.format.extent | 3118 bytes | |
dc.format.mimetype | application/pdf | |
dc.format.mimetype | text/plain | |
dc.publisher | Wiley Subscription Services, Inc., A Wiley Company | en_US |
dc.subject.other | Life and Medical Sciences | en_US |
dc.subject.other | Genetics | en_US |
dc.title | Pure monosomy and pure trisomy of 13q21.2–31.1 consequent to a familial insertional translocation: Exclusion of PCDH9 as the responsible gene for autosomal dominant auditory neuropathy (AUNA1) | en_US |
dc.type | Article | en_US |
dc.rights.robots | IndexNoFollow | en_US |
dc.subject.hlbsecondlevel | Genetics | en_US |
dc.subject.hlbtoplevel | Health Sciences | en_US |
dc.description.peerreviewed | Peer Reviewed | en_US |
dc.contributor.affiliationum | Division of Pediatric Otolaryngology, Department of Otolaryngology-Head and Neck Surgery, University of Michigan Health System, Ann Arbor, Michigan | en_US |
dc.contributor.affiliationum | Division of Pediatric Otolaryngology, Department of Otolaryngology-Head and Neck Surgery, University of Michigan Health System, Ann Arbor, Michigan | en_US |
dc.contributor.affiliationother | Research and Development, Cytogenetics and Molecular Biology, TOMA Advanced Biomedical Assays S.p.A., Busto Arsizio, Varese, Italy ; TOMA, Advanced Biomedical Assays S.p.A., Via Ferrer 25/27, 21052 Busto Arsizio, VA, Italia. | en_US |
dc.contributor.affiliationother | Research and Development, Cytogenetics and Molecular Biology, TOMA Advanced Biomedical Assays S.p.A., Busto Arsizio, Varese, Italy | en_US |
dc.contributor.affiliationother | Research and Development, Cytogenetics and Molecular Biology, TOMA Advanced Biomedical Assays S.p.A., Busto Arsizio, Varese, Italy | en_US |
dc.contributor.affiliationother | I Clinica Pediatrica, Fondazione Policlinico Mangiagalli Regina Elena, Milan, Italy | en_US |
dc.contributor.affiliationother | Research and Development, Cytogenetics and Molecular Biology, TOMA Advanced Biomedical Assays S.p.A., Busto Arsizio, Varese, Italy | en_US |
dc.contributor.affiliationother | Research and Development, Cytogenetics and Molecular Biology, TOMA Advanced Biomedical Assays S.p.A., Busto Arsizio, Varese, Italy | en_US |
dc.contributor.affiliationother | Research and Development, Cytogenetics and Molecular Biology, TOMA Advanced Biomedical Assays S.p.A., Busto Arsizio, Varese, Italy | en_US |
dc.contributor.affiliationother | I Clinica Pediatrica, Fondazione Policlinico Mangiagalli Regina Elena, Milan, Italy | en_US |
dc.contributor.affiliationother | Research and Development, Cytogenetics and Molecular Biology, TOMA Advanced Biomedical Assays S.p.A., Busto Arsizio, Varese, Italy | en_US |
dc.contributor.affiliationother | Research and Development, Cytogenetics and Molecular Biology, TOMA Advanced Biomedical Assays S.p.A., Busto Arsizio, Varese, Italy | en_US |
dc.contributor.affiliationother | Research and Development, Cytogenetics and Molecular Biology, TOMA Advanced Biomedical Assays S.p.A., Busto Arsizio, Varese, Italy | en_US |
dc.contributor.affiliationother | Research and Development, Cytogenetics and Molecular Biology, TOMA Advanced Biomedical Assays S.p.A., Busto Arsizio, Varese, Italy | en_US |
dc.identifier.pmid | 19353688 | en_US |
dc.description.bitstreamurl | http://deepblue.lib.umich.edu/bitstream/2027.42/62136/1/ajma_32754_sm_SupplTab1.pdf | |
dc.identifier.doi | 10.1002/ajmg.a.32754 | en_US |
dc.identifier.source | American Journal of Medical Genetics Part A | en_US |
dc.owningcollname | Interdisciplinary and Peer-Reviewed |
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