Rare homozygous mutation in TUBB8 associated with oocyte maturation defect-2 in a consanguineous mating family.

ABSTRACT:

Purpose

Variations in many genes may lead to the occurrence of oocyte maturation defects. To investigate the genetic basis of oocyte maturation defects, we performed clinical and genetic analysis of a pedigree.

Methods

The proband with oocyte maturation defect-2 receiving ovulation induction therapy and her parents were selected for clinical detection, whole exome sequencing and Sanger sequencing. One unrelated healthy woman received ovulation induction therapy as control. Mutations were assessed after frequency screening of public exome databases. Then homozygous variants shared by the proband and her parents were selected.

Results

Arrest of oocytes maturation was observed. A new missense mutation in TUBB8 (TUBB8: NM_177,987: exon 2: c. C161T: p. A54V) was identified

SUBMITTER: Xing Q 

PROVIDER: S-EPMC7175565 | biostudies-literature | 2020 Apr

REPOSITORIES: biostudies-literature