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Article: Male and female differential reproductive rate could explain parental transmission asymmetry of mutation origin in Hirschsprung disease

TitleMale and female differential reproductive rate could explain parental transmission asymmetry of mutation origin in Hirschsprung disease
Authors
KeywordsHirschsprung Disease
Parent-Of-Origin Effect
Parental Transmission Asymmetry
Reproductive Rate
Issue Date2012
PublisherNature Publishing Group. The Journal's web site is located at http://www.nature.com/ejhg
Citation
European Journal Of Human Genetics, 2012, v. 20 n. 9, p. 917-920 How to Cite?
AbstractHirschsprung disease (HSCR, aganglionic megacolon) is a complex and heterogeneous disease with an incidence of 1 in 5000 live births. Despite the multifactorial determination of HSCR in the vast majority of cases, there is a monogenic subgroup for which private rare RET coding sequence mutations with high penetrance are found (45% of HSCR familial cases). An asymmetrical parental origin is observed for RET coding sequence mutations with a higher maternal inheritance. A parent-of-origin effect is usually assumed. Here we show that a differential reproductive rate for males and females also leads to an asymmetrical parental origin, which was never considered as a possible explanation till now. In the case of HSCR, we show a positive association between penetrance of the mutation and parental transmission asymmetry: no parental transmission asymmetry is observed in sporadic RET CDS mutation carrier cases for which penetrance of the mutation is low, whereas a parental transmission asymmetry is observed in affected sib-pairs for which penetrance of the mutation is higher. This allows us to conclude that the explanation for this parental asymmetry is that more severe mutations have resulted in a differential reproductive rate between male and female carriers. © 2012 Macmillan Publishers Limited All rights reserved.
Persistent Identifierhttp://hdl.handle.net/10722/173043
ISSN
2015 Impact Factor: 4.58
2015 SCImago Journal Rankings: 2.077
ISI Accession Number ID
References

 

DC FieldValueLanguage
dc.contributor.authorJannot, ASen_US
dc.contributor.authorAmiel, Jen_US
dc.contributor.authorPelet, Aen_US
dc.contributor.authorLantieri, Fen_US
dc.contributor.authorFernandez, RMen_US
dc.contributor.authorVerheij, JBGMen_US
dc.contributor.authorGarciaBarcelo, Men_US
dc.contributor.authorArnold, Sen_US
dc.contributor.authorCeccherini, Ien_US
dc.contributor.authorBorrego, Sen_US
dc.contributor.authorHofstra, RMWen_US
dc.contributor.authorTam, PKHen_US
dc.contributor.authorMunnich, Aen_US
dc.contributor.authorChakravarti, Aen_US
dc.contributor.authorClergetDarpoux, Fen_US
dc.contributor.authorLyonnet, Sen_US
dc.date.accessioned2012-10-30T06:26:57Z-
dc.date.available2012-10-30T06:26:57Z-
dc.date.issued2012en_US
dc.identifier.citationEuropean Journal Of Human Genetics, 2012, v. 20 n. 9, p. 917-920en_US
dc.identifier.issn1018-4813en_US
dc.identifier.urihttp://hdl.handle.net/10722/173043-
dc.description.abstractHirschsprung disease (HSCR, aganglionic megacolon) is a complex and heterogeneous disease with an incidence of 1 in 5000 live births. Despite the multifactorial determination of HSCR in the vast majority of cases, there is a monogenic subgroup for which private rare RET coding sequence mutations with high penetrance are found (45% of HSCR familial cases). An asymmetrical parental origin is observed for RET coding sequence mutations with a higher maternal inheritance. A parent-of-origin effect is usually assumed. Here we show that a differential reproductive rate for males and females also leads to an asymmetrical parental origin, which was never considered as a possible explanation till now. In the case of HSCR, we show a positive association between penetrance of the mutation and parental transmission asymmetry: no parental transmission asymmetry is observed in sporadic RET CDS mutation carrier cases for which penetrance of the mutation is low, whereas a parental transmission asymmetry is observed in affected sib-pairs for which penetrance of the mutation is higher. This allows us to conclude that the explanation for this parental asymmetry is that more severe mutations have resulted in a differential reproductive rate between male and female carriers. © 2012 Macmillan Publishers Limited All rights reserved.en_US
dc.languageengen_US
dc.publisherNature Publishing Group. The Journal's web site is located at http://www.nature.com/ejhgen_US
dc.relation.ispartofEuropean Journal of Human Geneticsen_US
dc.subjectHirschsprung Diseaseen_US
dc.subjectParent-Of-Origin Effecten_US
dc.subjectParental Transmission Asymmetryen_US
dc.subjectReproductive Rateen_US
dc.titleMale and female differential reproductive rate could explain parental transmission asymmetry of mutation origin in Hirschsprung diseaseen_US
dc.typeArticleen_US
dc.identifier.emailGarciaBarcelo, M: mmgarcia@hkucc.hku.hken_US
dc.identifier.emailTam, PKH: paultam@hkucc.hku.hken_US
dc.identifier.authorityGarciaBarcelo, M=rp00445en_US
dc.identifier.authorityTam, PKH=rp00060en_US
dc.description.naturelink_to_subscribed_fulltexten_US
dc.identifier.doi10.1038/ejhg.2012.35en_US
dc.identifier.pmid22395866-
dc.identifier.scopuseid_2-s2.0-84865251825en_US
dc.identifier.hkuros211276-
dc.relation.referenceshttp://www.scopus.com/mlt/select.url?eid=2-s2.0-84865251825&selection=ref&src=s&origin=recordpageen_US
dc.identifier.volume20en_US
dc.identifier.issue9en_US
dc.identifier.spage917en_US
dc.identifier.epage920en_US
dc.identifier.isiWOS:000307633700002-
dc.publisher.placeUnited Kingdomen_US
dc.identifier.scopusauthoridJannot, AS=6507981039en_US
dc.identifier.scopusauthoridAmiel, J=7102312975en_US
dc.identifier.scopusauthoridPelet, A=7004252827en_US
dc.identifier.scopusauthoridLantieri, F=6506772531en_US
dc.identifier.scopusauthoridFernandez, RM=35324125700en_US
dc.identifier.scopusauthoridVerheij, JBGM=7003347665en_US
dc.identifier.scopusauthoridGarciaBarcelo, M=6701767303en_US
dc.identifier.scopusauthoridArnold, S=23468560000en_US
dc.identifier.scopusauthoridCeccherini, I=7004367074en_US
dc.identifier.scopusauthoridBorrego, S=7004133244en_US
dc.identifier.scopusauthoridHofstra, RMW=7006771436en_US
dc.identifier.scopusauthoridTam, PKH=7202539421en_US
dc.identifier.scopusauthoridMunnich, A=55048037400en_US
dc.identifier.scopusauthoridChakravarti, A=35355137200en_US
dc.identifier.scopusauthoridClergetDarpoux, F=7005255602en_US
dc.identifier.scopusauthoridLyonnet, S=35432935300en_US
dc.identifier.citeulike10437399-

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