Recurrence of CCHS-associated PHOX2B Poly-Alanine expansion variant due to paternal mosaicism

CONCLUSIONS: These findings have important implications for improving genetic counseling of CCHS families as they suggest that even parents without CCHS symptoms may have somatic chimerism, necessitating careful genetic counseling and consideration of prenatal testing for subsequent pregnancies.PMID:38467313 | DOI:10.1016/j.gene.2024.148358

Source: Gene - March 11, 2024 Category: Genetics & Stem Cells Authors: Huling Jiang Zepeng Ping Suping Li Jianjun Zhu Source Type: research