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Article

Parental origin and somatic mosaicism of PHOX2B mutations in Congenital Central Hypoventilation Syndrome.

Human mutation - 1 Jan 2008

Parodi Sara, Bachetti Tiziana, Lantieri Francesca, Di Duca Marco, Santamaria Giuseppe, Ottonello Giancarlo, Matera Ivana, Ravazzolo Roberto, Ceccherini Isabella

Abstract excerpt

Heterozygous polyalanine repeat expansions of PHOX2B have been associated with Congenital Central Hypoventilation Syndrome, a rare neurocristopathy characterized by absence of adequate control of respiration during sleep. Here we report a PHOX2B mutational screening in 63 CCHS patients, 58 of whom presenting with poly-A expansions or frameshift, missense and nonsense mutations. To assess a somatic or germline...

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PMID: 18157832
DOI: 10.1002/humu.9516

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