Noonanovej syndróm
Rozsah vyšetrenia: PTPN11, exóny 4-15, SOS1, 3 exóny, RAF, 4 exóny, BRAF, 7 exónov, KRAS, 4 exóny, NRAS, 4 exóny, HRAS, 4 exóny, MEK1, 3 exóny, MEK2, 3 exóny, CBL, 3 exóny, SHOC2, 1 exón
Analyzačná metóda: Masívne paralelné sekvenovanie, priame sekvenovanie
Noonan syndrome (NS, https://omim.org/entry/163950) is an autosomal dominant disorder characterized by short stature, facial dysmorphism, and a wide spectrum of congenital heart defects. The distinctive facial features consist of a broad forehead, hypertelorism, downslanting palpebral fissures, a high-arched palate, and low-set, posteriorly rotated ears. Cardiac involvement is present in up to 90% of patients. Pulmonic stenosis and hypertrophic cardiomyopathy are the most common forms of cardiac disease, but a variety of other lesions are also observed. Additional relatively frequent features include multiple skeletal defects (chest and spine deformities), webbed neck, mental retardation, cryptorchidism, and bleeding diathesis (summary by Tartaglia et al., 2002).
Genetic Heterogeneity of Noonan Syndrome
See also NS3 (609942), caused by mutation in the KRAS gene (190070); NS4 (610733), caused by mutation in the SOS1 gene (182530); NS5 (611553), caused by mutation in the RAF1 gene (164760); NS6 (613224), caused by mutation in the NRAS gene (164790); NS7 (613706), caused by mutation in the BRAF gene (164757); NS8 (615355), caused by mutation in the RIT1 gene (609591); NS9 (616559), caused by mutation in the SOS2 gene (601247); and NS10 (616564), caused by mutation in the LZTR1 gene (600574).
See also NS2 (605275) for a possible autosomal recessive form of NS; Noonan syndrome-like disorder with loose anagen hair-1 (NSLH1; 607721), caused by mutation in the SHOC2 gene (602775); Noonan syndrome-like disorder with loose anagen hair-2 (NSLH2; 617506), caused by mutation in the PPP1CB gene (600590); and Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia (NSLL; 613563), caused by mutation in the CBL gene (165360).
Mutations in the neurofibromin gene (NF1; 613113), which is the site of mutations causing classic neurofibromatosis type I (NF1; 162200), have been found in neurofibromatosis-Noonan syndrome (NFNS; 601321).
K vyšetreniu je potrebná indikácia klinického genetika a nutné absolvovať genetickú konzultáciu.
Zoznam ambulancií klinickej genetiky nájdete na http://sslg.sk/index.php/sslg/pracoviska.
Periférna krv
- 1-2 ml žilovej krvi do skúmaviek s EDTA (napr. Vacutainer – ružový vrchnák), používané aj na krvný obraz
- po odbere krátkodobo (2-5 dní) skladovať pri 4-8°C, príp. pri izbovej teplote – max. 24 hod.
- štandardne nemraziť, v prípade zmrazenia je nutné transportovať zmrazené, opakované zmrazovanie degraduje DNA
- transport – krátkodobý pri bežnej teplote, aj poštou (1-2 dni), dlhodobý pri 4-8°C
Bukálny ster:
1. Pred odberom približne hodinu nič nejedzte ani nepite. Optimálne podmienky na odber sú ráno pred umytím zubov.
2. Otvorte sáčok s odberovou súpravou a opatrne vyberte vrchnák s tyčinkou z tuby.
3. Opakovanými krúživými pohybmi hore-dolu (asi 10x) stierajte v ústnej dutine povrch vnútornej strany líca tak, aby bol celý povrch tampónu pokrytý.
4. Následne tyčinku opatrne vložte do príslušnej tuby a v horizontálnej polohe nechajte sušiť aspoň jednu hodinu.
5. Tubu označte menom vzorky.