Noonan syndrome and systemic lupus erythematosus in a patient with a novel KRAS mutation.
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.
Leventopoulos
G
G
Department of Clinical Genetics, University of Athens, Aghia Sophia Children's Hospital, Athens, Greece. levent2669@gmail.com
Denayer
E
E
Makrythanasis
P
P
Papapolychroniou
C
C
Fryssira
H
H
D000293:Adolescent; D015897:Comorbidity; D005260:Female; D020022:Genetic Predisposition to Disease / Q000235:genetics; D006801:Humans; D008180:Lupus Erythematosus, Systemic / Q000175:diagnosis / Q000453:epidemiology* / Q000235:genetics*; D009154:Mutation / Q000235:genetics*; D009634:Noonan Syndrome / Q000175:diagnosis / Q000453:epidemiology* / Q000235:genetics*; D011518:Proto-Oncogene Proteins / Q000235:genetics*; D016283:Proto-Oncogene Proteins p21(ras); D018631:ras Proteins / Q000235:genetics*
C117307:KRAS protein, human; D011518:Proto-Oncogene Proteins; D016283:Proto-Oncogene Proteins p21(ras); D018631:ras Proteins