TUBB8 Gene Variants in Female Infertility: 385 Cases and 400 Controls

A whole exome sequencing screening of 385 infertile female subjects and 400 controls identified 29 TUBB8 gene variants, of which 23 were novel. The study, led by Wei Zheng from the Reproductive & Genetic Hospital CITIC-Xiangya, expands the variant spectrum and reports new phenotypes like large polar body. These findings aim to lay a foundation for future genetic counseling of infertile women.

Use Cases

• Assessing pathogenicity of novel TUBB8 variants based on computational modeling approaches mentioned in the description.
• Correlating specific TUBB8 variants with phenotypes like complete cleavage failure or large polar body.
• Informing genetic counseling protocols for infertile women based on the expanded variant spectrum.
• Prioritizing TUBB8 for genetic diagnosis in cases of female infertility and embryonic arrest.

Strengths

• Includes data from 385 infertile female subjects and 400 controls.
• Identifies 29 TUBB8 variants, expanding on the 47 previously known in the literature.
• Reports novel phenotypes such as large polar body associated with TUBB8 variants.

Limitations

• Column-level documentation is absent; field semantics must be inferred after download.
• Row count is unknown, which may limit suitability assessment.
• Last update date is unknown; freshness unverified.

Provenance

Source

Reproductive & Genetic Hospital CITIC-Xiangya

Collection Method

Whole exome sequencing (WES) screening