Further refinement of COL4A1 and COL4A2 related cortical malformations

Cavallin, Mara; Miné, Manuèle; Philbert, Marion; Boddaert, Nathalie; Lepage, Jean Marie; Coste, Thibault; Lopez-Gonzalez, Vanessa; Sánchez-Soler, María José; Ballesta-Martínez, Maria Juliana; Remerand, Ganaëlle; Pasquier, Laurent; Guët, Agnès; Chelly, Jamel; Lascelles, Karine; Prieto-Morin, Carol; Kossorotoff, Manoëlle; Lasserve, Elisabeth Tournier; Bahi‐Buisson, Nadia

doi:10.1016/j.ejmg.2018.10.004

Cited by 36 publications

(31 citation statements)

References 28 publications

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“…Mu tations in COL4A1 may disrupt some lenticular signaling in the direction of mesenchymal cells 13,14) . The hemolytic anemia reported in a previous study was also observed in the present case; however, the exact cause has not yet been identified, and other stud ies suggested that this symptom is less relevant to COL4A1 mutation 5,15) . The patient also exhibit ed developmental…”

Section: Discussionsupporting

confidence: 71%

A Novel COL4A1 Mutation in a Neonate with Intrauterine Intraventricular Hemorrhage and Porencephaly

Noh

Jung

et al. 2020

Neonatal Med

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Collagen type IV alpha 1 (COL4A1) plays an important role in construction of the base ment membranes of all human tissues, especially vessels. Mutations in COL4A1 lead to various multisystemic dysfunctions, including hereditary porencephaly, hemorrhagic stroke, hemiplegia, cerebral small vessel disease, and nephropathy. In this study, we describe a neonatal case featuring a novel de novo COL4A1 mutation, manifesting as fetal intraventricular hemorrhage and porencephaly. This patient is one of the youngest to have been diagnosed with the most severe phenotype. Our experience may assist clinicians in the diagnosis and management of this extremely rare genetic condition.

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Section: Discussionsupporting

confidence: 71%

A Novel COL4A1 Mutation in a Neonate with Intrauterine Intraventricular Hemorrhage and Porencephaly

Noh

Jung

et al. 2020

Neonatal Med

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“…19 COL4A1 and COL4A2 are present in almost all basement membranes. Allelic heterogeneity caused by COL4A1 and COL4A2 variants results in brain abnormalities manifesting with schizencephaly and severe neurological deficits including cerebral palsy, intellectual disability and focal epilepsy, 20 which has only been demonstrated in a series of mutant mouse lines. The parents finally terminated the pregnancy and refused to conduct an autopsy, so we could not appreciate the detailed characterizations and mental status.…”

Section: Discussionmentioning

confidence: 99%

Fetus of 8q22.2q24.3 duplication and 13q33.2q34 deletion derived from a maternal balanced translocation

Liu

Xie

Zhang

et al. 2020

J of Obstet and Gynaecol

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The concomitant occurrence of 8q duplication and 13q deletion is the first to be detected by noninvasive prenatal testing (NIPT) to date. Through case analysis, we could provide a clinical approach to pregnant women with chromosomal abnormalities revealed by NIPT. The combination of traditional karyotype and copy number variation sequencing (CNV‐seq) could better locate the abnormal chromosomal region and further identify the source of fetal chromosomal abnormalities. Simultaneously, we evaluated the fetal morphology by ultrasound examination. The karyotype of the fetus was 46,XY,der(13)t(8;13)(q22;q32)mat and CNV‐seq results showed that there was an approximately 45.26‐Mb duplication in 8q22.2‐q24.3 (101040001–146 300 000) and an approximately 9.54‐Mb deletion in 13q33.2‐q34 (105560001–115 100 000). Prenatal ultrasound revealed the fetal structural abnormalities presented with hypoplasia of the cerebellar vermis, a flat nose, echogenic bowel and absent gallbladder. Herein, we consider that combination detection of traditional karyotyping, CNV‐seq and ultrasonography provides a valuable method for pregnant women with abnormal NIPT.

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“…Schizencephaly is a rare disorder of neuronal migration which manifests as a gray matter-lined cleft extending from the ependyma to the pia mater. 1,2 The spectrum of schizencephaly varies, the disorder can be unilateral or bilateral and is more frequently localized in the frontal and parietal lobes. Schizencephaly can be accompanied by other defects of the central nervous system.…”

Section: Introductionmentioning

confidence: 99%

“…Schizencephaly can be accompanied by other defects of the central nervous system. 2,3 Most of the patients have neurological impairments that affect motor and cognitive functions. 3 Schizencephaly is a heterogeneous condition and can develop as a result of genetic and acquired causes in early neuroembryogenesis, many of them being of vascular disruptive nature.…”

Section: Introductionmentioning

confidence: 99%

“…7 The COL4A1 and COL4A2 gene mutations have been reported in relation to a broad spectrum of cerebrovascular diseases and are also the most frequent genetic mutations seen in schizencephaly and porencephaly. 2,7 However, only a few cases have provided clear evidence of the development of schizencephaly after fetal stroke 8,9 and, to the best of our knowledge, no case report has described this sequence of events after neonatal periventricular venous infarction (PVI).…”

Section: Introductionmentioning

confidence: 99%

See 1 more Smart Citation

Periventricular Venous Infarction in an Extremely Premature Infant as the Cause of Schizencephaly

Ilves

Õunap

et al. 2019

Journal of Pediatric Neurology

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Schizencephaly is a disorder of neuronal migration which has been hypothesized to arise from vascular ischemic lesion during the early phase of neuroembryogenesis. We describe a case of a premature boy born at 23 weeks of gestation with neonatal stroke. On the first day of life cranial ultrasonography detected a grade II intraventricular hemorrhage and on day 12 periventricular venous infarction. At the postconceptional age of 40 weeks, magnetic resonance imaging revealed a gray matter–lined cleft, suggesting schizencephaly. We have evidence of the pathogenesis of schizencephaly following vascular ischemic stroke early in neurodevelopment before neuronal migration is completed.

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Further refinement of COL4A1 and COL4A2 related cortical malformations

Cited by 36 publications

References 28 publications

A Novel COL4A1 Mutation in a Neonate with Intrauterine Intraventricular Hemorrhage and Porencephaly

A Novel COL4A1 Mutation in a Neonate with Intrauterine Intraventricular Hemorrhage and Porencephaly

Fetus of 8q22.2q24.3 duplication and 13q33.2q34 deletion derived from a maternal balanced translocation

Periventricular Venous Infarction in an Extremely Premature Infant as the Cause of Schizencephaly

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