6 Jun 2016, Gel status: 1
Ellen McDonagh (Genomics England Curator)
Publications for TMEM114 were set to PMID: 17492639 Jamieson et al (2007) Hum Mutat 28:968-977 - original report of a balanced translocation which involved the TMEM114 gene associated with congenital/juvenile cataracts in a family pedigree. They also report identifying heterozygous missense variants in several other cases, however these were found in healthy sibling and mother: "The I35T and F106L variants were in conserved amino acids in the first predicted protein loop outside the membrane (Fig. 3A and B). These mutations were absent in 200 normal control chromosomes as well as 129 other congenital cataract patients. Nevertheless, these mutations were also detected in a heterozygous state in the DNA from the patients’ apparently healthy sibling and mother, respectively. One sequence variant, c.440C4T, p.A147V, was a polymorphism, which was found three times in the cohort and was not present in all affected individuals in a familial case."; PMID: 24357539 Gai et al, (2014) - report a deletion of the TMEM114 gene in a boy and father without cataracts, and summarise further database entries of deletions which have also not reported a cataract phenotype. They highlight that either non-penetrance, or other factors are causal in the previous published report that associated variants in this gene with cataract.