References 66 and 67 identified CTC1 mutations in Coats plus syndrome. Blackburn 3.
A novel AIFM1 mutation expands the phenotype to an infantile motor neuron disease. The prevalence of the disease is around The telotype defines the telomere state in Saccharomyces cerevisiae and is inherited as a dominant non- Mendelian characteristic in cells lacking telomerase.
Panel b reproduced, with permission, from Ref. Genotype—phenotype correlations Telomere length is a modifier of disease severity Mutations in TERT and TR are the most commonly identifiable defects in monogenic telomere syndromes. Telomerase and idiopathic pulmonary fibrosis.
This study identified mutations in the X-linked DKC1 gene as a first cause of dyskeratosis congenita. Insights into telomerase biochemistry then revealed that it was as an essential component of the telomerase enzyme 10 However, affected individuals often have subclinical disease concurrently in other organs, even when symptoms related to a single disorder predominate 13 Moreover, in the literature are also reported some cases presenting vestibular damage [ 3738 ].
Because this eye-color gene is located on the X chromosome only, reciprocal crosses do not produce the same offspring ratios. Weegerink N. These additional phenotypes now extend the scope of telomere-mediated disease into clinical contexts of prevalent conditions, such as IPF and diabetes.
For some patients with CMTX1, in addition to the classical CMT clinical phenotype, the presence of sensorineural hearing loss, late motor development, tremor, pathologic fractures or temporary central disorders have been reported [ 26 ].