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Article

Mutations in CTC1, encoding the CTS telomere maintenance complex component 1, cause cerebroretinal microangiopathy with calcifications and cysts.

American journal of human genetics - 9 Mar 2012

Polvi Anne, Linnankivi Tarja, Kivelä Tero, Herva Riitta, Keating James P, Mäkitie Outi, Pareyson Davide, Vainionpää Leena, Lahtinen Jenni, Hovatta Iiris, Pihko Helena, Lehesjoki Anna-Elina

Abstract excerpt

Cerebroretinal microangiopathy with calcifications and cysts (CRMCC) is a rare multisystem disorder characterized by extensive intracranial calcifications and cysts, leukoencephalopathy, and retinal vascular abnormalities. Additional features include poor growth, skeletal and hematological abnorm...

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Topics

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 22387016
DOI: 10.1016/j.ajhg.2012.02.002
PMCID: PMC3309194

Genes

CTC1
TINF2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-22387016-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

Related research

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Mutations in CTC1, encoding the CTS telomere maintenance complex component 1, cause cerebroretinal microangiopathy with calcifications and cysts.PMID 22387016Read ↗

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Functional characterization of human CTC1 mutations reveals novel mechanisms responsible for the pathogenesis of the telomere disease Coats plus.Semantic proximity Read ↗

Preimplantation genetic testing-M for pathogenic variant in CTC1 gene causing cerebroretinal microangiopathy.Semantic proximity Read ↗

Cerebro-retinal microangiopathy with calcifications and cysts due to recessive mutations in the CTC1 gene.Semantic proximity Read ↗

Cerebroretinal microangiopathy with calcifications and cysts associated with CTC1 and NDP mutations.Semantic proximity Read ↗

Cerebroretinal microangiopathy with calcifications and cysts: A case report.Semantic proximity Read ↗

Molecular basis of telomere syndrome caused by CTC1 mutations.Semantic proximity Read ↗

Identification of novel SNORD118 mutations in seven patients with leukoencephalopathy with brain calcifications and cysts.Semantic proximity Read ↗

Exudative retinopathy, cerebral calcifications, duodenal atresia, preaxial polydactyly, micropenis, microcephaly and short stature: a new syndrome?Semantic proximity Read ↗

Novel compound heterozygous STN1 variants are associated with Coats Plus syndrome.Semantic proximity Read ↗

An emerging role for the conserved telomere component 1 (CTC1) in human genetic disease.Semantic proximity Read ↗

Cerebroretinal microangiopathy with calcifications and cysts (CRMCC).Semantic proximity Read ↗

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