<scp>COL4A1</scp> mutation‐related disorder presenting as fetal intracranial bleeding, hydrocephalus, and polymicrogyria

Beňová, Barbora; Vlčková, Markéta; Libá, Zuzana; Heřmanovská, Barbora; Kynčl, Martin; Dorňáková, Jana; Táborský, Jakub; Kršek, Pavel; Musilová, Alena; Janota, J; Balaščaková, Miroslava

doi:10.1002/epi4.12681

Cited by 4 publications

(4 citation statements)

References 19 publications

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“… 21 These collagen type IV genes encode for nearly all vascular basement membranes and have been shown to be associated with foetal intracranial haemorrhages, schizencephaly, porencephaly, and hydrocephalus. 22 …”

Section: Resultsmentioning

confidence: 99%

Mimickers of hypoxic-ischaemic brain injury in term neonates: What the radiologist should know

Misser,

Archary

2024

South African Journal of Radiology

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Patterns of neonatal hypoxic-ischaemic brain injury (HIBI) are fairly well known. There are, however, other diagnoses with imaging patterns that may mimic HIBI. A review of MRI studies was conducted for children with suspected cerebral palsy, correlated with prior imaging, clinical details and laboratory tests where available. In the 63 identified cases, imaging features were, in many cases, very similar to the known patterns of HIBI. The alternative diagnoses can be classified as developmental, vascular, chromosomal, infections, metabolic disorders, and congenital syndromes. These findings are described in this pictorial essay. The potential mimickers of HIBI described in this essay can demonstrate similar imaging appearances to HIBI.Contribution: There are multiple possible causes of neonatal encephalopathy other than hypoxic-ischaemic encephalopathy. Many conditions may mimic HIBI, each of which can be associated with significant morbidity. It is prudent for the reporting radiologist to be aware of these alternate clinico-radiological diagnoses.

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Section: Resultsmentioning

confidence: 99%

Mimickers of hypoxic-ischaemic brain injury in term neonates: What the radiologist should know

Misser,

Archary

2024

South African Journal of Radiology

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“…A de novo c.3548G > T pathogenic missense variant was found in COL4A1 and linked to the patient's phenotype. 43 This case is an example of pseudo-TORCH syndrome. Pseudo-TORCH syndromes generally present with profound microcephaly, white matter changes, PMG, calcifications, and developmental delay, mimicking TORCH.…”

Section: Clinical Vignettementioning

confidence: 89%

“…At the age of 18 months, the child developed drug‐resistant focal seizures and had moderate developmental delay. A de novo c.3548G > T pathogenic missense variant was found in COL4A1 and linked to the patient's phenotype 43 …”

Section: Excluding Non‐genetic Causes Of MCDmentioning

confidence: 99%

Diagnostic work‐up in malformations of cortical development

Rijckmans,

Stouffs,

Jansen

2024

Develop Med Child Neuro

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Malformations of cortical development (MCDs) represent a heterogeneous spectrum of disorders characterized by atypical development of the cerebral cortex. MCDs are most often diagnosed on the basis of imaging, although subtle lesions, such as focal cortical dysplasia, may only be revealed on neuropathology. Different subtypes have been defined, including lissencephaly, heterotopia, cobblestone malformation, polymicrogyria, and dysgyria. Many MCDs are of genetic origin, although acquired factors, such as congenital cytomegalovirus infections and twinning sequence, can lead to similar phenotypes. In this narrative review, we provide an overview of the diagnostic approach to MCDs, which is illustrated with clinical vignettes, on diagnostic pitfalls such as somatic mosaicism and consanguinity, and recognizable phenotypes on imaging, such as tubulinopathies, the lissencephaly spectrum, tuberous sclerosis complex, and FLNA‐related periventricular nodular heterotopia.

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“…[ 30 ] COL4A1, as a member of the type IV collagen family and a crucial constituent of the basement membrane, has been identified as a significant contributor in various types of cancer. [ 31 ] Recent investigations have revealed abnormal expression of COL4A1 in invasive ductal carcinoma of the breast cancer [ 32 ] and bladder tumor, [ 33 ] linking it to tumor invasion and metastasis. Moreover, upregulation of COL4A1 has been reported in patients with Oral Squamous Cell Carcinoma.…”

Section: Discussionmentioning

confidence: 99%

A pan-cancer analysis of TNFAIP8L1 in human tumors

Sun,

Zhang,

Zhu

et al. 2023

Medicine

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TNFAIP8L1, as a recently identified member in TNFAIP8 family, plays an important role in tumorigenesis. However, a pan-cancer analysis of TNFAIP8L1 in human tumors has not been conducted until now. The main purpose of study is to investigate TNFAIP8L1 during 33 different types of human tumors by using TCGA and GTEx. The pan-cancer analysis showed that TNFAIP8L1 was significantly over-expressed in 15 cancers and low-expressed in 9 cancers. There were distinct relations between TNFAIP8L1 expression and prognosis of patients with cancer. Furthermore, we also found that DNA methylation and RNA modification of TNFAIP8L1 were associated with many cancers. And then, we detected that TNFAIP8L1 level was positively associated with cancer-associated fibroblasts (CAFs) in many tumors. And, we obtained that TNFAIP8L1 expression was related with most of immune inhibitory and stimulatory genes in multiple types of tumors. We also found TNFAIP8L1 expression was correlated with most of chemokine, receptor, MHC, immunoinhibitor and immunostimulator gens in most of cancers. Moreover, we detected TNFAIP8L1 expression was associated with TMB and MSI in several tumors. Finally, TNFAIP8L1 gene had a significant positive association with 5 genes including BCL6B, DLL4, PCDH12, COL4A1 and DLL4 in the majority of tumors. GO enrichment and KEGG pathway analyses showed that TNFAIP8L1 in thepathogenesis of cancer may be related to “purine nucleoside binding,” “purine ribonucleoside binding,” “ECM-receptor interaction,” etc. Our first pan-cancer study may provide a deep comprehending of TNFAIP8L1 in tumoeigenesis from different tumors.

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COL4A1 mutation‐related disorder presenting as fetal intracranial bleeding, hydrocephalus, and polymicrogyria

Cited by 4 publications

References 19 publications

Mimickers of hypoxic-ischaemic brain injury in term neonates: What the radiologist should know

Mimickers of hypoxic-ischaemic brain injury in term neonates: What the radiologist should know

Diagnostic work‐up in malformations of cortical development

A pan-cancer analysis of TNFAIP8L1 in human tumors

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