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Article: A case of G1013R FBN1 mutation: A potential genotype-phenotype correlation in severe Marfan syndrome

TitleA case of G1013R FBN1 mutation: A potential genotype-phenotype correlation in severe Marfan syndrome
Authors
KeywordsFBN1
genotype–phenotype correlation
Marfan syndrome
Issue Date2020
PublisherJohn Wiley & Sons, Inc. The Journal's web site is located at http://www3.interscience.wiley.com/cgi-bin/jabout/33129/ProductInformation.html
Citation
American Journal of Medical Genetics Part A, 2020, Epub 2020-03-21 How to Cite?
AbstractMarfan Syndrome (MFS) is an autosomal dominant connective tissue disorder with a wide range of severities. Ninety‐five percent of MFS probands have a mutation in the fibrillin‐1 gene (FBN1); however, there are a high number of unique mutations complicating attempts at establishing any phenotype–genotype correlations for this disease (Tiecke et al., European Journal of Human Genetics, 2001, 9, 13–21). One of the few extant genotype–phenotype correlations is in exon 24–32 which have been associated with a severe pediatric presentation of neonatal MFS with predominately cardiovascular symptoms. We present a 24‐year‐old male patient with a heterozygous de novo variant NM_000138.4: c.3037G>A (p.G1013R) located in exon 25 of the FBN1 gene. The patient was found to have dysplastic mitral and tricuspid valves with dilated aortic root at 9 months of age. This is a notable case in that the location of this patient's mutation and his age of symptom onset would indicate a guarded prognosis. Further, this mutation, FBN1 G1013R, has been reported in the literature in four other unrelated patients all of whom presented at a young age with cardiac involvement and all of whom had relative longevity when compared to other patients with mutations in this exon 24–32 hot spot. These findings may represent a more specific genotype–phenotype correlation within this mutational hot spot.
Persistent Identifierhttp://hdl.handle.net/10722/281808
ISSN
2017 Impact Factor: 2.264
2015 SCImago Journal Rankings: 1.115

 

DC FieldValueLanguage
dc.contributor.authorWillis, BR-
dc.contributor.authorLee, M-
dc.contributor.authorRethanavelu, K-
dc.contributor.authorFung, JLF-
dc.contributor.authorWong, RMS-
dc.contributor.authorHui, P-
dc.contributor.authorYeung, KS-
dc.contributor.authorLo, IFM-
dc.contributor.authorChung, BHY-
dc.date.accessioned2020-03-27T04:22:46Z-
dc.date.available2020-03-27T04:22:46Z-
dc.date.issued2020-
dc.identifier.citationAmerican Journal of Medical Genetics Part A, 2020, Epub 2020-03-21-
dc.identifier.issn1552-4825-
dc.identifier.urihttp://hdl.handle.net/10722/281808-
dc.description.abstractMarfan Syndrome (MFS) is an autosomal dominant connective tissue disorder with a wide range of severities. Ninety‐five percent of MFS probands have a mutation in the fibrillin‐1 gene (FBN1); however, there are a high number of unique mutations complicating attempts at establishing any phenotype–genotype correlations for this disease (Tiecke et al., European Journal of Human Genetics, 2001, 9, 13–21). One of the few extant genotype–phenotype correlations is in exon 24–32 which have been associated with a severe pediatric presentation of neonatal MFS with predominately cardiovascular symptoms. We present a 24‐year‐old male patient with a heterozygous de novo variant NM_000138.4: c.3037G>A (p.G1013R) located in exon 25 of the FBN1 gene. The patient was found to have dysplastic mitral and tricuspid valves with dilated aortic root at 9 months of age. This is a notable case in that the location of this patient's mutation and his age of symptom onset would indicate a guarded prognosis. Further, this mutation, FBN1 G1013R, has been reported in the literature in four other unrelated patients all of whom presented at a young age with cardiac involvement and all of whom had relative longevity when compared to other patients with mutations in this exon 24–32 hot spot. These findings may represent a more specific genotype–phenotype correlation within this mutational hot spot.-
dc.languageeng-
dc.publisherJohn Wiley & Sons, Inc. The Journal's web site is located at http://www3.interscience.wiley.com/cgi-bin/jabout/33129/ProductInformation.html-
dc.relation.ispartofAmerican Journal of Medical Genetics Part A-
dc.rightsPreprint This is the pre-peer reviewed version of the following article: [FULL CITE], which has been published in final form at [Link to final article using the DOI]. This article may be used for non-commercial purposes in accordance with Wiley Terms and Conditions for Use of Self-Archived Versions. Postprint This is the peer reviewed version of the following article: [FULL CITE], which has been published in final form at [Link to final article using the DOI]. This article may be used for non-commercial purposes in accordance with Wiley Terms and Conditions for Use of Self-Archived Versions.-
dc.subjectFBN1-
dc.subjectgenotype–phenotype correlation-
dc.subjectMarfan syndrome-
dc.titleA case of G1013R FBN1 mutation: A potential genotype-phenotype correlation in severe Marfan syndrome-
dc.typeArticle-
dc.identifier.emailLee, M: mianne@hku.hk-
dc.identifier.emailFung, JLF: jasflf@connect.hku.hk-
dc.identifier.emailWong, RMS: wongmsr@HKUCC-COM.hku.hk-
dc.identifier.emailHui, P: chukhui@hku.hk-
dc.identifier.emailYeung, KS: ksyyeung@hku.hk-
dc.identifier.emailChung, BHY: bhychung@hku.hk-
dc.identifier.authorityChung, BHY=rp00473-
dc.description.naturelink_to_subscribed_fulltext-
dc.identifier.doi10.1002/ajmg.a.61567-
dc.identifier.hkuros309550-
dc.identifier.volumeEpub 2020-03-21-
dc.publisher.placeUnited States-

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