NID1 variant associated with occipital cephaloceles in a family expressing a spectrum of phenotypes

McNiven, Vanda; Itō, Yoko; Hartley, Taila; Kernohan, Kristin D.; Miller, Elka; Canada, Care Rare; Armour, Christine M.

doi:10.1002/ajmg.a.61095

Cited by 9 publications

(4 citation statements)

References 23 publications

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“…In our study, only 3 of 15 fetuses presented with hydrocephalus in the second trimester; this is consistent with previous observations that hydrocephalus may develop later in pregnancy or early infancy [ 5 – 8 ]. We observed callosal anomalies, nodular heterotopia, schizencephaly, and occipital encephalocele as coexisting conditions, in agreement with previous reports [ 12 , 15 , 35 – 37 ]. We were unable to fully assess cerebral gyral anomalies, such as focal cortical dysplasia or polymicrogyria, which are more accurately identified later in gestation.…”

Section: Discussionsupporting

confidence: 93%

Regional brain development in fetuses with Dandy-Walker malformation: A volumetric fetal brain magnetic resonance imaging study

et al. 2022

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Dandy-Walker malformation (DWM) is a common prenatally diagnosed cerebellar malformation, characterized by cystic dilatation of the fourth ventricle, upward rotation of the hypoplastic vermis, and posterior fossa enlargement with torcular elevation. DWM is associated with a broad spectrum of neurodevelopmental abnormalities such as cognitive, motor, and behavioral impairments, which cannot be explained solely by cerebellar malformations. Notably, the pathogenesis of these symptoms remains poorly understood. This study investigated whether fetal structural developmental abnormalities in DWM extended beyond the posterior fossa to the cerebrum even in fetuses without apparent cerebral anomalies. Post-acquisition volumetric fetal magnetic resonance imaging (MRI) analysis was performed in 12 fetuses with DWM and 14 control fetuses. Growth trajectories of the volumes of the cortical plate, subcortical parenchyma, cerebellar hemispheres, and vermis between 18 and 33 weeks of gestation were compared. The median (interquartile range) gestational ages at the time of MRI were 22.4 (19.4–24.0) and 23.9 (20.6–29.2) weeks in the DWM and control groups, respectively (p = 0.269). Eight of the 12 fetuses with DWM presented with associated cerebral anomalies, including hydrocephalus (n = 3), cerebral ventriculomegaly (n = 3), and complete (n = 2) and partial (n = 2) agenesis of the corpus callosum (ACC); 7 presented with extracerebral abnormalities. Chromosomal abnormalities were detected by microarray analysis in 4 of 11 fetuses with DWM, using amniocentesis. Volumetric analysis revealed that the cortical plate was significantly larger in fetuses with DWM than in controls (p = 0.040). Even without ACC, the subcortical parenchyma, whole cerebrum, cerebellar hemispheres, and whole brain were significantly larger in fetuses with DWM (n = 8) than in controls (p = 0.004, 0.025, 0.033, and 0.026, respectively). In conclusion, volumetric fetal MRI analysis demonstrated that the development of DWM extends throughout the brain during the fetal period, even without apparent cerebral anomalies.

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Section: Discussionsupporting

confidence: 93%

Regional brain development in fetuses with Dandy-Walker malformation: A volumetric fetal brain magnetic resonance imaging study

et al. 2022

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“…The reported prevalence of chromosomal abnormalities is 16.3%, 20 rare mutations in the following genes, ZIC1, ZIC4, FOXC1, FGF17, LAMC1, and NID1, have been identified. 23,24 VERMIAN HYPOPLASIA OR VERMIAN DYSPLASIA VH or vermian dysplasia (VD) is defined as a small cerebellar vermis for gestation, in some cases with superior rotation or elevation of the vermian tissue but without enlargement of the posterior fossa or torcularlambdoid inversion. The cerebellar tail sign is a linear T2-weighted hypointensity corresponding to the inferior part of the vermis.…”

Section: Dandy-walker Malformationmentioning

confidence: 99%

“…DWM is usually sporadic, with a low risk of recurrence (1−5%) 22 or may occur as part of chromosomal anomalies. The reported prevalence of chromosomal abnormalities is 16.3%, 20 rare mutations in the following genes, ZIC1, ZIC4, FOXC1, FGF17, LAMC1, and NID1, have been identified 23,24 …”

Section: Dandy–walker Malformationmentioning

confidence: 99%

Fetal MRI assessment of posterior fossa anomalies: A review

Miller

Orman

Huisman

2021

Journal of Neuroimaging

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Prenatal ultrasound (US) is the first prenatal imaging tool for screening and evaluation of posterior fossa malformations since it is noninvasive, widely available, and safe for both mother and child. Fetal MRI is a widely used secondary technique to confirm, correct, or complement questionable US findings and plays an essential role in evaluating fetuses with suspected US findings and /or positive family history. The main sequences of fetal MRI consist of T2-weighted (T2w) ultrafast, single-shot sequences. Axial, coronal, and sagittal images are typically acquired allowing for a detailed evaluation of the posterior fossa contents. Also, various complimentary sequences, such as T1w, T2*w gradient sequences, or advanced techniques, including diffusion-weighted imaging, diffusion tensor imaging, and magnetic resonance spectroscopy, may provide additional information based on the studied malformation. Inclusion of these techniques should be done with careful risk-benefit analysis. The use of fetal MRI also aims to evaluate for associated anomalies. In addition, prenatal diagnosis of posterior fossa malformations is still a challenge but advances in knowledge in human developmental anatomy, genetic, and imaging recognition patterns have enabled us to shed some light on prognostic information that will help with the counseling of families. Finally, high-resolution late third trimester fetal MRI offers a safe alternative to early postnatal MR imaging, basically taking advantage of the uterine environment as a kind of "maternal incubator." Our goal is to discuss the spectrum of prenatal posterior fossa pathologies that can be studied by fetal MRI and their key neuroimaging features.

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“…Similarly, in a human disease Nidogen-Laminin interactions seem involved in expression of the illness. Case reports of patients with autosomal dominant Dandy-Walker malformation and occipital encephaloceles found mutations in Nidogen1 and the Nidogen binding region of LamininC1 ( Darbro et al, 2013 ; Chai et al, 2018 ; McNiven et al, 2019 ; Dietvorst et al, 2023 ). The patients showed a broad spectrum of phenotypic variability including small bony defects, arachnoid cysts and occipital encephaloceles ( Figure 2G ).…”

Section: Nidogen In Diseasementioning

confidence: 99%

Nidogen in development and disease

Töpfer,

Holz

2024

Front. Cell Dev. Biol.

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Nidogen, also known as entactin, is a multifunctional glycoprotein that plays a crucial role in the maintenance of the basement membrane (BM), morphogenesis and neuronal plasticity. This review aims to provide an overview of the structural features, molecular interactions and diverse functions associated with Nidogen. As a bridging molecule within the BM, Nidogen acts as a linchpin connecting various extracellular matrix (ECM) components. Its involvement in tissue development, homeostasis, and pathological conditions underscores its biological and medical significance. We discuss the current state of knowledge regarding Nidogen’s role in tissue maintenance, cell adhesion, migration, and signaling, shedding light on its intricate contributions to physiological and pathological processes.

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NID1 variant associated with occipital cephaloceles in a family expressing a spectrum of phenotypes

Cited by 9 publications

References 23 publications

Regional brain development in fetuses with Dandy-Walker malformation: A volumetric fetal brain magnetic resonance imaging study

Regional brain development in fetuses with Dandy-Walker malformation: A volumetric fetal brain magnetic resonance imaging study

Fetal MRI assessment of posterior fossa anomalies: A review

Nidogen in development and disease

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