Homozygous c.130-131 ins A (pW44X) mutation in the HAX1 gene as the most common cause of congenital neutropenia in Turkey: Report from the Turkish Severe Congenital Neutropenia Registry.
Deniz Yilmaz KarapinarTürkan PatıroğluAyşe MetinÜmran ÇalışkanTiraje CelkanBarış YılmazZeynep KarakaşTuba Hilkay KarapinarBurcu AkıncıFerda ÖzkınayHüseyin OnayMehmet Akif YeşilipekHimmet Haluk AkarGülen TüysüzHüseyin TokgözGül Nihal ÖzdemirAyça KiykimSerap KaramanYurdanur KılınçYeşim OymakAlphan KüpesizLale OlcayZuhal Keskin YıldırımGönül AydoğanMüge GökçeTalia İleriYusuf Ziya AralAli BayBerna AtabayZuhre KayaMurat SökerNihal KaradaşUğur ÖzbekBilge Özsait SelçukHamiyet Hekimci ÖzdemirVedat UygunGülsün Tezcan KarasuŞebnem YılmazPublished in: Pediatric blood & cancer (2019)
In Turkey, mutation analysis should be started with HAX1, and if this is negative, ELANE and G6PC3 should be checked. Because of the very high percentage of consanguineous marriage, rare mutations should be tested in patients with a negative mutation screen.