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GENATLAS PHENOTYPE

last update : 24-08-2020

Symbol	ZCF1
Location	11q23.1
Name	zygotic cleavage failure 1
Corresponding gene	BTG4
Main clinical features	unique early embryonic phenotype resulting in female infertility and recurrent failure of in vitro fertilization (IVF) and/or intracytoplasmic sperm injection (ICSI)
Genetic determination	autosomal recessive
Function/system disorder	sex-genitalia
Type	disease

Remark(s)

pathogenic variants resulted in the functional loss of BTG4, including protein loss, truncation, and impairment of the interaction between BTG4 and CNOT7, and homozygous mutations in BTG4 prevent maternal mRNA decay and lead to female infertility (PMID: 32502391))