Cerebro-retinal microangiopathy with calcifications and cysts due to recessive mutations in the CTC1 gene

Bisserbe, A.; Tertian, G; Buffet, Catherine; Turhan, Ali G.; Lambotte, Olivier; Nasser, G.; Alvin, Patrick; Tardieu, M.; Riant, Florence; Bergametti, Françoise; Tournier‐Lasserve, Elisabeth; Denier, Christian

doi:10.1016/j.neurol.2015.01.566

Cited by 17 publications

(20 citation statements)

References 10 publications

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“…Whole exome sequencing identified in both families heterozygous missense variants in a novel gene that we named FOPV but did not identify mutations in other genes previously reported to be associated with OPV . Sanger sequencing confirmed the FOPV mutations.…”

Section: Discussionmentioning

confidence: 64%

“…A schematic representation of FOPV gene structure is shown in the supporting information section (Figure ). In both families, no mutations were identified in other genes previously reported to be associated with OPV …”

Section: Resultsmentioning

confidence: 80%

“…Observations of familial cases of OPV and of association of OPV with genetic disorders suggest a potential role for genetics in, at least, a subgroup of patients with OPV . Recently, mutations in several genes have been described in familial cases ( KCNN3 , DGUOK ), or in patients with other inherited ( TERT , TERC and other genes of telomere disorders) or developmental ( NOTCH1 and CTC1 related “syndromic cases”) disorders, and Turner syndrome . In reported cases of familial OPV, associated or not with a gene defect, the pattern of inheritance was consistent with, or established as autosomal recessive or dominant .…”

Section: Introductionmentioning

confidence: 99%

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Mutations in the novel gene FOPV are associated with familial autosomal dominant and non‐familial obliterative portal venopathy

Besmond

Valla

Hubert

et al. 2017

Liver International

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Section: Discussionmentioning

confidence: 64%

Section: Resultsmentioning

confidence: 80%

Section: Introductionmentioning

confidence: 99%

See 1 more Smart Citation

Mutations in the novel gene FOPV are associated with familial autosomal dominant and non‐familial obliterative portal venopathy

Besmond

Valla

Hubert

et al. 2017

Liver International

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show abstract

Section: Introductionmentioning

confidence: 99%

“…[1–3] So far, only 15 cases have been reported in the English literature. [3–11] It is a multisystem disease and clinical phenotypes are variable, among which the neurological disorder manifested on neuroimaging is the most remarkable feature of CRMCC: a triad of leukoencephalopathy, intracranial calcifications, and parenchymal cysts. [4–6,8,9] In this paper, we report a 23-year-old female patient with CRMCC, who has a long history of multisystem involvement for 11 years, with focus on the neuroimaging features, to get a better understanding of the rare disease and improve our diagnostic ability.…”

Section: Introductionmentioning

confidence: 99%

Cerebroretinal microangiopathy with calcifications and cysts

Zhu²,

Zhang³

2017

Medicine

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Rational:Cerebroretinal microangiopathy with calcifications and cysts (CRMCC) is believed to be an autosomal recessive genetic disease, with disorders in multisystem organs. Its characteristic neurological disorders manifested on neuroimaging are a triad of leukoencephalopathy, intracranial calcifications, and parenchymal cysts. In this paper, we report a CRMCC patient with multisystem involvement, focusing on the neuroimaging features, to get a better understanding of the rare disease and improve our diagnostic ability.Patient Concerns:The 23-year-old female patient firstly presented with an adolescence onset of ophthalmological manifestations. Four years later, hematological and neurological disorders occurred, the latter of which demonstrated a relatively slow progression in the following 7 years preceding her presentation to our hospital.Interventions:During hospitalization, disorders involving digestive, cardiovascular and respiratory systems were also detected. In addition, a more comprehensive depiction of neurological disorders on neuroimaging was also obtained.Diagnoses:On the basis of multiple system disorders and the detection of mutations in conserved telomere maintenance component 1(CTC1) gene, a diagnosis of CRMCC was made.Outcomes:After supportive therapy during her 4-week hospitalization, the patient's general condition improved and was released from the hospital.Lessons:CRMCC could be primarily diagnosed with the aid of its multiple system disorders and remarkable neuroimaging features. Cerebral micro hemorrhages determined by the combination of CT and T2∗-weighted magnetic resonance images in our case could provide some additional information for diagnosis. Furthermore, several other associated disorders were depicted for the first time in our case, expanding the clinical spectrum of CRMCC.

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Physiopathology of Telomeres

KANNENGIESSER,

REVY

2024

Telomeres

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Cerebro-retinal microangiopathy with calcifications and cysts due to recessive mutations in the CTC1 gene

Cited by 17 publications

References 10 publications

Mutations in the novel gene FOPV are associated with familial autosomal dominant and non‐familial obliterative portal venopathy

Mutations in the novel gene FOPV are associated with familial autosomal dominant and non‐familial obliterative portal venopathy

Cerebroretinal microangiopathy with calcifications and cysts

Physiopathology of Telomeres

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