TRIM44 encodes Tripartite Motif Containing 44, a protein belonging to the tripartite motif (TRIM) family. TRIM44 was mapped to 11p13 in a study (PMID:10568747) searching for genes in a region of chromosome 11 associated with WAGR syndrome (Wilms tumor-aniridia-genital anomalies-retardation). In 7 affected members of 4-generation Chinese family with aniridia linked to chromosome 11p13, Zhang et al. (PMID: 26394807) identified a heterozygous missense variant, c.463G>A (p.Gly155Arg), in exon 1 of TRIM44. The mutation segregated fully with aniridia in the family. Functional analysis in the human lens epithelial cell line HLE-B3 showed that overexpression of wildtype TRIM44 significantly reduced the expression of PAX6 at the mRNA and protein levels, while the p.Gly155Arg mutation enhanced TRIM44 activity relative to the wild-type control (PMID: 26394807). There is only one published study reporting this gene-disease association to date, so there is limited but suggestive evidence to support the relationship between TRIM44 and ocular dysgenesis caused by defects in PAX6 regulation. While more case-level and experimental evidence is needed to establish this gene-disease relationship definitively, no contradictory evidence has yet emerged. This classification was approved by the ClinGen Glaucoma and Neuro-Ophthalmology Gene Curation Expert Panel on March 16th, 2023 (SOP Version 10).
The GenCC data are available free of restriction under a CC0 1.0 Universal (CC0 1.0) Public Domain Dedication. The GenCC requests that you give attribution to GenCC and the contributing sources whenever possible and appropriate. The accepted Flagship manuscript is now available from Genetics in Medicine (https://www.gimjournal.org/article/S1098-3600(22)00746-8/fulltext).
The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. The GenCC does not independently verify the submitted information. Though the information is obtained from sources believed to be reliable, no warranty, expressed or implied, is made regarding accuracy, adequacy, completeness, reliability or usefulness of any information. This disclaimer applies to both isolated and aggregate uses of the information. The information is provided on an "as is" basis, collected through periodic submission and therefore may not represent the most up-to-date information from the submitters. If you have questions about the medical relevance of information contained on this website, please see a healthcare professional; if you have questions about specific gene-disease claims, please contact the relevant sources; and if you have questions about the representation of the data on this website, please contact gencc@thegencc.org.