Alt. symbols: C17orf68 | FLJ22170 | AAF132

Approved name: CST telomere replication complex component 1
Alt. names: tmp494178, chromosome 17 open reading frame 68, CST telomere maintenance complex component 1 | conserved telomere maintenance component 1, alpha accessory factor 132, conserved telomere capping protein 1

Location: 17p13.1: 8224815 - 8248058 (-)
Gene type: protein_coding, 28 transcripts.

Scores: LoFtool: | pLI: 0.00000035 | LOEUF: 0.628

HGNC: 26169

NCBI: 80169, RefSeq: NG_032148.2

Ensembl: ENSG00000178971.17

LRG_1124 | Status: public

OMIM: 613129

Expression | ProteinAtlas

Biallelic mutations in CTC1 cause Cerebroretinal microangiopathy with calcifications and cysts (CRMCC) [MIM:612199], also known as Coats plus. Coats plus is a syndrome that clinically overlaps Dyskeratosis congenita and it is primarily characterized by intracranial calcifications, leukodystrophy, and brain cysts, resulting in spasticity, ataxia, dystonia, seizures, and cognitive decline. Patients also have retinal telangiectasia and exudates (Coats disease) as well as extraneurologic manifestati ons, including osteopenia with poor bone healing and a high risk of gastrointestinal bleeding and portal hypertension caused by vasculature ectasias in the stomach, small intestine, and liver. Some individuals also have hair, skin, and nail changes, as well as anemia and thrombocytopenia. The first families were reported in 2012 by three different groups (PMIDs:22387016, 22532422, 22267198). They published 27 patients from 24 families who carried 20 different mutations. Today, there are about 40 different mutations classified as pathogenic in ClinVar, Varsome and/or UniProt, and about 30 of them are predicted loss-of-function (pLOF) mutations, but also some missense (p.A227V, V259M, V665G, R840W, V871M, R987W, L1142H) and splice-site mutations have been reported. Those missense mutations have been found only in heterozygosity in gnomAD and in less than 50 individuals each. [Load More]