Di Donato, Nataliya ORCID: 0000-0001-9439-4677, Neuhann, Teresa, Kahlert, Anne-Karin, Klink, Barbara, Hackmann, Karl, Neuhann, Irmingard, Novotna, Barbora, Schallner, Jens, Krause, Claudia, Glass, Ian A., Parnell, Shawn E., Benet-Pages, Anna, Nissen, Anke M., Berger, Wolfgang, Altmueller, Janine, Thiele, Holger, Weber, Bernhard H. F., Schrock, Evelin, Dobyns, William B., Bier, Andrea and Rump, Andreas ORCID: 0000-0001-7116-6364 (2016). Mutations in EXOSC2 are associated with a novel syndrome characterised by retinitis pigmentosa, progressive hearing loss, premature ageing, short stature, mild intellectual disability and distinctive gestalt. J. Med. Genet., 53 (6). S. 419 - 426. LONDON: BMJ PUBLISHING GROUP. ISSN 1468-6244

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Abstract

Background Retinitis pigmentosa in combination with hearing loss can be a feature of different Mendelian disorders. We describe a novel syndrome caused by biallelic mutations in the 'exosome component 2' (EXOSC2) gene. Methods Clinical ascertainment of three similar affected patients followed by whole exome sequencing. Results Three individuals from two unrelated German families presented with a novel Mendelian disorder encompassing childhood myopia, early onset retinitis pigmentosa, progressive sensorineural hearing loss, hypothyroidism, short stature, brachydactyly, recognisable facial gestalt, premature ageing and mild intellectual disability. Whole exome sequencing revealed homozygous or compound heterozygous missense variants in the EXOSC2 gene in all three patients. EXOSC2 encodes the 'ribosomal RNA-processing protein 4' (RRP4)-one of the core components of the RNA exosome. The RNA exosome is a multiprotein complex that plays key roles in RNA processing and degradation. Intriguingly, the EXOSC2-associated phenotype shows only minimal overlap with the previously reported diseases associated with mutations in the RNA exosome core component genes EXOSC3 and EXOSC8. Conclusion We report a novel condition that is probably caused by altered RNA exosome function and expands the spectrum of clinical consequences of impaired RNA metabolism.

Item Type: Journal Article
Creators:
CreatorsEmailORCIDORCID Put Code
Di Donato, NataliyaUNSPECIFIEDorcid.org/0000-0001-9439-4677UNSPECIFIED
Neuhann, TeresaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Kahlert, Anne-KarinUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Klink, BarbaraUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Hackmann, KarlUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Neuhann, IrmingardUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Novotna, BarboraUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Schallner, JensUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Krause, ClaudiaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Glass, Ian A.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Parnell, Shawn E.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Benet-Pages, AnnaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Nissen, Anke M.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Berger, WolfgangUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Altmueller, JanineUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Thiele, HolgerUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Weber, Bernhard H. F.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Schrock, EvelinUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Dobyns, William B.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Bier, AndreaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Rump, AndreasUNSPECIFIEDorcid.org/0000-0001-7116-6364UNSPECIFIED
URN: urn:nbn:de:hbz:38-273884
DOI: 10.1136/jmedgenet-2015-103511
Journal or Publication Title: J. Med. Genet.
Volume: 53
Number: 6
Page Range: S. 419 - 426
Date: 2016
Publisher: BMJ PUBLISHING GROUP
Place of Publication: LONDON
ISSN: 1468-6244
Language: English
Faculty: Unspecified
Divisions: Unspecified
Subjects: no entry
Uncontrolled Keywords:
KeywordsLanguage
RNA EXOSOME; COMPLEX; HYPOPLASIA; SUBUNITS; DISEASEMultiple languages
Genetics & HeredityMultiple languages
Refereed: Yes
URI: http://kups.ub.uni-koeln.de/id/eprint/27388

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