Article
Paired-like homeobox gene (PHOX2B) nonpolyalanine repeat expansion mutations (NPARMs): genotype-phenotype correlation in congenital central hypoventilation syndrome (CCHS).
Genetics in medicine : official journal of the American College of Medical Genetics - 1 Sept 2021
Zhou Amy, Rand Casey M, Hockney Sara M, Niewijk Grace, Reineke Patrick, Speare Virginia, Berry-Kravis Elizabeth M, Zhou Lili, Jennings Lawrence J, Yu Min, Ceccherini Isabella, Bachetti Tiziana, Pennock Melanie, Yap Kai Lee, Weese-Mayer Debra E
Abstract excerpt
PURPOSE: CCHS is an extremely rare congenital disorder requiring artificial ventilation as life support. Typically caused by heterozygous polyalanine repeat expansion mutations (PARMs) in the PHOX2B gene, identification of a relationship between PARM length and phenotype severity has enabled anticipatory management. However, for patients with non-PARMs in PHOX2B (NPARMs, ~10% of CCHS patients), a...
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