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1p13.2 deletion dis...
1p13.2 deletion displays clinical features overlapping Noonan syndrome, likely related to NRAS gene haploinsufficiency
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- Linhares, Natalia Duarte (författare)
- Univ Fed Minas Gerais, Fac Med, Lab Genom Clin, Belo Horizonte, MG, Brazil.
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- Menezes Freire, Maira Cristina (författare)
- Univ Fed Minas Gerais, Inst Ciencias Biol, Dept Bioquim & Imunol, Belo Horizonte, MG, Brazil.
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- do Carmo Lisboa Cardenas, Raony Guimaraes Correa (författare)
- Univ Fed Minas Gerais, Fac Med, Lab Genom Clin, Belo Horizonte, MG, Brazil.
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- Pena, Heloisa Barbosa (författare)
- Lab Gene Nucl Genet Med, Belo Horizonte, MG, Brazil.
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- Lachlan, Katherine (författare)
- Princess Anne Hosp, Wessex Clin Genet Serv, Southampton, Hants, England.
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- Dallapiccola, Bruno (författare)
- Bambino Gesu Children Hosp, Rome, Italy.
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- Bacino, Carlos (författare)
- Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA.
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- Delobel, Bruno (författare)
- Hop St Vincent de Paul, GH Inst Catholique Lille, Ctr Genet Chromos, Lille, France.
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- James, Paul (författare)
- Victorian Clin Genet Serv, Melbourne, Vic, Australia.
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- Thuresson, Ann-Charlotte (författare)
- Uppsala universitet,Institutionen för immunologi, genetik och patologi
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- Annerén, Göran (författare)
- Uppsala universitet,Institutionen för immunologi, genetik och patologi
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- Pena, Sergio D. J. (författare)
- Univ Fed Minas Gerais, Fac Med, Lab Genom Clin, Belo Horizonte, MG, Brazil.;Univ Fed Minas Gerais, Inst Ciencias Biol, Dept Bioquim & Imunol, Belo Horizonte, MG, Brazil.;Lab Gene Nucl Genet Med, Belo Horizonte, MG, Brazil.
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Univ Fed Minas Gerais, Fac Med, Lab Genom Clin, Belo Horizonte, MG, Brazil Univ Fed Minas Gerais, Inst Ciencias Biol, Dept Bioquim & Imunol, Belo Horizonte, MG, Brazil. (creator_code:org_t)
- 2016
- 2016
- Engelska.
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Ingår i: Genetics and Molecular Biology. - 1415-4757 .- 1678-4685. ; 39:3, s. 349-357
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https://doi.org/10.1...
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https://uu.diva-port... (primary) (Raw object)
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https://urn.kb.se/re...
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https://doi.org/10.1...
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Abstract
Ämnesord
Stäng
- Deletion-induced hemizygosity may unmask deleterious autosomal recessive variants and be a cause of the phenotypic variability observed in microdeletion syndromes. We performed complete exome sequencing (WES) analysis to examine this possibility in a patient with 1p13.2 microdeletion. Since the patient displayed clinical features suggestive of Noonan Syndrome (NS), we also used WES to rule out the presence of pathogenic variants in any of the genes associated with the different types of NS. We concluded that the clinical findings could be attributed solely to the 1p13.2 haploinsufficiency. Retrospective analysis of other nine reported patients with 1p13.2 microdeletions showed that six of them also presented some characteristics of NS. In all these cases, the deleted segment included the NRAS gene. Gain-of-function mutations of NRAS gene are causally related to NS type 6. Thus, it is conceivable that NRAS haploinsufficiency and gain-of-function mutations may have similar clinical consequences. The same phenomenon has been described for two other genes belonging to the Ras/MAPK pathway: MAP2K2 and SHOC2. In conclusion, we here report genotype-phenotype correlations in patients with chromosome 1p13.2 microdeletions and we propose that NRAS may be a critical gene for the NS characteristics in the patients.
Ämnesord
- MEDICIN OCH HÄLSOVETENSKAP -- Medicinska och farmaceutiska grundvetenskaper (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Basic Medicine (hsv//eng)
Nyckelord
- 1p13.2 deletion
- Noonan syndrome type 6
- NRAS gene
- RASopathy
- unmasking heterozygosity
Publikations- och innehållstyp
- ref (ämneskategori)
- art (ämneskategori)
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- Av författaren/redakt...
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Linhares, Natali ...
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Menezes Freire, ...
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do Carmo Lisboa ...
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Pena, Heloisa Ba ...
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Lachlan, Katheri ...
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Dallapiccola, Br ...
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visa fler...
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Bacino, Carlos
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Delobel, Bruno
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James, Paul
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Thuresson, Ann-C ...
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Annerén, Göran
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Pena, Sergio D. ...
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visa färre...
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