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Mutation in NRAS in familial Noonan syndrome - case report and review of the literature

Artikel i vetenskaplig tidskrift
Författare S. Ekvall
M. Wilbe
Jovanna Dahlgren
E. Legius
A. van Haeringen
Otto Westphal
G. Anneren
M. L. Bondeson
Publicerad i Bmc Medical Genetics
Volym 16
Sidor Article no 95
ISSN 1471-2350
Publiceringsår 2015
Publicerad vid Institutionen för kliniska vetenskaper, Avdelningen för pediatrik
Sidor Article no 95
Språk en
Länkar dx.doi.org/10.1186/s12881-015-0239-...
Ämnesord NRAS, Noonan syndrome, Mutation, RAS-MAPK pathway, RASopathies, JUVENILE MYELOMONOCYTIC LEUKEMIA, PHENOTYPIC SPECTRUM, PATHWAY
Ämneskategorier Cancer och onkologi, Pediatrik

Sammanfattning

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.

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Denna text är utskriven från följande webbsida:
http://www.gu.se/forskning/publikation/?publicationId=225664
Utskriftsdatum: 2019-10-16