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Article

Preimplantation genetic testing-M for pathogenic variant in CTC1 gene causing cerebroretinal microangiopathy.

Journal of assisted reproduction and genetics - 1 Apr 2026

Zhou Hongbin, Zhang Han, Zhang Huakun, Zhao Dengpeng, Li Tianfeng, Wu Zhengzhong, He Xiaoying, Lin Xianhua, Qin Chunrong, Li Xuemei

Abstract excerpt

PURPOSE: Cerebroretinal microangiopathy with calcifications and cysts (CRMCC) is an autosomal recessive genetic and multisystem disorder characterized by extensive intracranial calcifications, leukoencephalopathy, and retinal vascular abnormalities, which is primarily caused by mutations in the CTC1 gene. Preimplantation genetic testing (PGT) is a procedure that helps patients choose embryos free of chromosome...

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Source

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Identifiers

PMID: 41575730
DOI: 10.1007/s10815-025-03794-x
PMCID: PMC13103106

Genes

CTC1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026.

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Preimplantation genetic testing-M for pathogenic variant in CTC1 gene causing cerebroretinal microangiopathy.PMID 41575730Read ↗

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