Cataract

Gene: TDRD7

Green List (high evidence)

PMID: 32420594 (2020) - Knockout mouse model recapitulates human cataracts phenotype and provides supporting functional data.

Created: 3 Sep 2020, 10:19 p.m. | Last Modified: 3 Sep 2020, 10:19 p.m.

Panel Version: 0.230

- 4 unrelated families with cataract and/or glaucoma (2 with homozygous frameshift TDRD7 mutations, 1 with homozygous in-frame deletion and 1 with paracentric inversion of Chr 9 resulting in TDRD7disruption) - Homozygous mutation-carrying males also presented with azoospermia - Reduced levels of TDRD7 transcripts and complete loss of TDRD7 protein in patient skin fibroblasts as demonstrated by RT-PCR and Western blot analysis (PMID: 28837160). - Homozygous Tdrd7-KO mice had cataract, glaucoma; male homozygous-KO mice had significantly smaller testes and failed to produce any pups

Created: 24 Apr 2020, 2:10 a.m. | Last Modified: 24 Apr 2020, 2:10 a.m.

Panel Version: 0.133

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Cataract 36, 613887; glaucoma; nonobstructive azoospermia; arrested spermatogenesis

Publications

• 28837160
• 21436445
• 32420594