MECP2 germline mosaicism plays an important part in the inheritance of Rett syndrome: a study of MECP2 germline mosaicism in males

• Published in: BMC medicine Vol. 21; no. 1; pp. 155 - 10
• Main Authors: Wen, Yongxin, Wang, Jiaping, Zhang, Qingping, Yang, Xiaoxu, Wei, Liping, Bao, Xinhua
• Format: Journal Article
• Language: English
• Published: England BioMed Central Ltd 20.04.2023; BioMed Central; BMC
• Subjects: Adult; Binomial distribution; Blood; Care and treatment; Daughters; De novo; Diagnosis; Disease prevention; Disorders; Families & family life; Family medical history; Fathers; Female; Gene mutations; Genetic aspects; Genetic disorders; Genetics; Germ Cells; Germline; Health aspects; Humans; Male; Males; MECP2; MeCP2 protein; Men; Methyl-CpG binding protein; Mosaicism; Mutation; Mutation hot spots; Offspring; Phenotype; Rett syndrome; Rett Syndrome - genetics; Semen; Software; Sperm; Statistical analysis; China; MECP2; Mosaicism; De novo; Germline; Rett syndrome

Germline mosaicisms could be inherited to offspring, which considered as "de novo" in most cases. Paternal germline MECP2 mosaicism has been reported in fathers of girls with Rett syndrome (RTT) previously. For further study, we focused on MECP2 germline mosaicism in males, not only RTT fa...