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  • Title: Recurrence of CCHS associated PHOX2B poly-alanine expansion mutation due to maternal mosaicism.
    Author: Bachetti T, Di Duca M, Della Monica M, Grappone L, Scarano G, Ceccherini I.
    Journal: Pediatr Pulmonol; 2014 Mar; 49(3):E45-7. PubMed ID: 23460545.
    Abstract:
    Heterozygous in frame trinucleotide duplications within the PHOX2B gene, leading to poly-alanine expansions, cause Congenital Central Hypoventilation Syndrome. Here we report about a CCHS patient, carrying a +13Ala PHOX2B expansion, whose asymptomatic mother resulted with a low level of mosaicism for the same mutation in peripheral blood cells. Her second pregnancy ended with the spontaneous miscarriage of a fetus who had inherited the PHOX2B mutation, thus confirming germline mosaicism in the mother and the need of proper genetic counseling to CCHS families.
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