Fig. 2From: Rare homozygous mutation in TUBB8 associated with oocyte maturation defect-2 in a consanguineous mating familyGenetic analysis of a mutation in TUBB8. a p.A54V is a homozygous mutation with a recessive inheritance pattern. b Sanger Sequencing of the proband and her parents. Her parents are carriers of the variant and the proband is a homozygote of the variant. c Multiple alignment of TUBB8 indicates that p.A54V is highly conservedBack to article page