Noonan syndrome and systemic lupus erythematosus in a patient with a novel KRAS mutation

G Leventopoulos; E Denayer; P Makrythanasis; C Papapolychroniou; H Fryssira

Noonan syndrome and systemic lupus erythematosus in a patient with a novel KRAS mutation

Clin Exp Rheumatol. 2010 Jul-Aug;28(4):556-7. Epub 2010 Aug 30.

Authors

G Leventopoulos¹, E Denayer, P Makrythanasis, C Papapolychroniou, H Fryssira

Affiliation

¹ Department of Clinical Genetics, University of Athens, Aghia Sophia Children's Hospital, Athens, Greece. levent2669@gmail.com

PMID: 20810036

Abstract

Noonan syndrome is characterised by distinct facial stigmata, short stature and congenital cardiopathy. It has a high genetic heterogeneity and mutations in six different genes can be involved. We report a patient with Noonan syndrome and a novel KRAS mutation who presents systemic lupus erythematosus.

Publication types

Case Reports

MeSH terms

Adolescent
Comorbidity
Female
Genetic Predisposition to Disease / genetics
Humans
Lupus Erythematosus, Systemic / diagnosis
Lupus Erythematosus, Systemic / epidemiology*
Lupus Erythematosus, Systemic / genetics*
Mutation / genetics*
Noonan Syndrome / diagnosis
Noonan Syndrome / epidemiology*
Noonan Syndrome / genetics*
Proto-Oncogene Proteins / genetics*
Proto-Oncogene Proteins p21(ras)
ras Proteins / genetics*

Substances

KRAS protein, human
Proto-Oncogene Proteins
Proto-Oncogene Proteins p21(ras)
ras Proteins