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Sökning: WFRF:(Annerén Göran) > (2015-2019) > Mutation in NRAS in...

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FältnamnIndikatorerMetadata
00005527naa a2200589 4500
001oai:gup.ub.gu.se/225664
003SwePub
008240528s2015 | |||||||||||000 ||eng|
009oai:DiVA.org:uu-265813
0247 a https://gup.ub.gu.se/publication/2256642 URI
0247 a https://doi.org/10.1186/s12881-015-0239-12 DOI
0247 a https://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-2658132 URI
040 a (SwePub)gud (SwePub)uu
041 a eng
042 9 SwePub
072 7a ref2 swepub-contenttype
072 7a art2 swepub-publicationtype
1001 a Ekvall, S.u Uppsala universitet,Medicinsk genetik och genomik4 aut
2451 0a Mutation in NRAS in familial Noonan syndrome - case report and review of the literature
264 c 2015-10-14
264 1b Springer Science and Business Media LLC,c 2015
520 a Background: Noonan syndrome (NS), a heterogeneous developmental disorder associated with variable clinical expression including short stature, congenital heart defect, unusual pectus deformity and typical facial features, is caused by activating mutations in genes involved in the RAS-MAPK signaling pathway. Case presentation: Here, we present a clinical and molecular characterization of a small family with Noonan syndrome. Comprehensive mutation analysis of NF1, PTPN11, SOS1, CBL, BRAF, RAF1, SHOC2, MAP2K2, MAP2K1, SPRED1, NRAS, HRAS and KRAS was performed using targeted next-generation sequencing. The result revealed a recurrent mutation in NRAS, c.179G > A (p.G60E), in the index patient. This mutation was inherited from the index patient's father, who also showed signs of NS. Conclusions: We describe clinical features in this family and review the literature for genotype-phenotype correlations for NS patients with mutations in NRAS. Neither of affected individuals in this family presented with juvenile myelomonocytic leukemia (JMML), which together with previously published results suggest that the risk for NS individuals with a germline NRAS mutation developing JMML is not different from the proportion seen in other NS cases. Interestingly, 50 % of NS individuals with an NRAS mutation (including our family) present with lentigines and/or Cafe-au-lait spots. This demonstrates a predisposition to hyperpigmented lesions in NRAS-positive NS individuals. In addition, the affected father in our family presented with a hearing deficit since birth, which together with lentigines are two characteristics of NS with multiple lentigines (previously LEOPARD syndrome), supporting the difficulties in diagnosing individuals with RASopathies correctly. The clinical and genetic heterogeneity observed in RASopathies is a challenge for genetic testing. However, next-generation sequencing technology, which allows screening of a large number of genes simultaneously, will facilitate an early and accurate diagnosis of patients with RASopathies.
650 7a MEDICIN OCH HÄLSOVETENSKAPx Klinisk medicinx Pediatrik0 (SwePub)302212 hsv//swe
650 7a MEDICAL AND HEALTH SCIENCESx Clinical Medicinex Pediatrics0 (SwePub)302212 hsv//eng
650 7a MEDICIN OCH HÄLSOVETENSKAPx Klinisk medicinx Cancer och onkologi0 (SwePub)302032 hsv//swe
650 7a MEDICAL AND HEALTH SCIENCESx Clinical Medicinex Cancer and Oncology0 (SwePub)302032 hsv//eng
650 7a MEDICIN OCH HÄLSOVETENSKAPx Medicinska och farmaceutiska grundvetenskaperx Medicinsk genetik0 (SwePub)301072 hsv//swe
650 7a MEDICAL AND HEALTH SCIENCESx Basic Medicinex Medical Genetics0 (SwePub)301072 hsv//eng
653 a NRAS
653 a Noonan syndrome
653 a Mutation
653 a RAS-MAPK pathway
653 a RASopathies
653 a JUVENILE MYELOMONOCYTIC LEUKEMIA
653 a PHENOTYPIC SPECTRUM
653 a PATHWAY
653 a NRAS
7001 a Wilbe, Mariau Uppsala universitet,Medicinsk genetik och genomik4 aut0 (Swepub:uu)marwi726
7001 a Dahlgren, Jovanna,d 1964u Gothenburg University,Göteborgs universitet,Institutionen för kliniska vetenskaper, Avdelningen för pediatrik,Institute of Clinical Sciences, Department of Pediatrics,Gothenburg Univ, Sahlgrenska Acad, Dept Paediat, Gothenburg, Sweden.4 aut0 (Swepub:gu)xdajov
7001 a Legius, E.u Katholieke Univ Leuven, Dept Human Genet, Leuven, Belgium.4 aut
7001 a van Haeringen, A.u Leiden Univ, Med Ctr, Dept Clin Genet, Leiden, Netherlands.4 aut
7001 a Westphal, Otto,d 1935u Gothenburg University,Göteborgs universitet,Institutionen för kliniska vetenskaper, Avdelningen för pediatrik,Institute of Clinical Sciences, Department of Pediatrics,Gothenburg Univ, Sahlgrenska Acad, Dept Paediat, Gothenburg, Sweden.4 aut0 (Swepub:gu)xwesot
7001 a Annerén, Göranu Uppsala universitet,Medicinsk genetik och genomik4 aut0 (Swepub:uu)goraanne
7001 a Bondeson, Marie-Louiseu Uppsala universitet,Medicinsk genetik och genomik4 aut0 (Swepub:uu)malobond
7102 a Uppsala universitetb Medicinsk genetik och genomik4 org
7730 t Bmc Medical Geneticsd : Springer Science and Business Media LLCg 16q 16x 1471-2350
8564 u https://bmcmedgenet.biomedcentral.com/track/pdf/10.1186/s12881-015-0239-1
8564 u https://doi.org/10.1186/s12881-015-0239-1y Fulltext
8564 u http://www.biomedcentral.com/1471-2350/16/95y Fulltext
8564 8u https://gup.ub.gu.se/publication/225664
8564 8u https://doi.org/10.1186/s12881-015-0239-1
8564 8u https://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-265813

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