Fig. 1.

Identification of TUBB8 mutation in the family of the infertile patient. a Pedigree of the family. Squares indicate male family members, circles indicate female family members, solid symbols indicate affected members, open symbols indicate unaffected family members, and equal signs denote no offspring. b Clinical characteristics of oocytes retrieved from the infertile patient (III-17). The oocytes retrieved from the patient at 24 h, and most of the embryos were arrested following IVF after 72 h. c Sanger sequence analysis in the coding region of TUBB8 in family members is implicated with a heterozygous missense mutation (c.1041 C>A: p.N347K) (II-4, II-7, II-11, II-13, III-17). d The missense mutation in TUBB8 causes an amino acid substitution of the encoded protein, and that amino acid is conserved across multiple species