A novel ISLR2-linked autosomal recessive syndrome of congenital hydrocephalus, arthrogryposis and abdominal distension

Alazami, Anas M.; Maddirevula, Sateesh; Seidahmed, Mohamed Z.; Albhlal, Lulu A; Alkuraya, Fowzan S.

doi:10.1007/s00439-018-1963-3

Cited by 9 publications

(1 citation statement)

References 5 publications

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“…Moreover, our study identifies the downregulation of specific genes, such as L1CAM, PCDH9, ISLR2, ADAMTSL2, and B4GAT1, which have been previously well characterized as playing an important role in congenital hydrocephalus and aqueductal stenosis [57][58][59][60][61][62][63][64] . The downregulation of L1CAM, a gene extensively studied and phenotyped for its role in X-linked congenital hydrocephalus, is particularly noteworthy 57,61 .…”

Section: Possibility Of Shared Molecular Pathways In Congenital Hydro...mentioning

confidence: 88%

Molecular Signatures of Normal Pressure Hydrocephalus: A Large-scale Proteomic Analysis of Cerebrospinal Fluid

Kamalian,

Barough,

et al. 2024

Preprint

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Given the persistent challenge of differentiating idiopathic Normal Pressure Hydrocephalus (iNPH) from similar clinical entities, we conducted an in-depth proteomic study of cerebrospinal fluid (CSF) in 28 shunt-responsive iNPH patients, 38 Mild Cognitive Impairment (MCI) due to Alzheimers disease, and 49 healthy controls. Utilizing the Olink Explore 3072 panel, we identified distinct proteomic profiles in iNPH that highlight significant downregulation of synaptic markers and cell-cell adhesion proteins. Alongside vimentin and inflammatory markers upregulation, these results suggest ependymal layer and transependymal flow dysfunction. Moreover, downregulation of multiple proteins associated with congenital hydrocephalus (e.g., L1CAM, PCDH9, ISLR2, ADAMTSL2, and B4GAT1) points to a possible shared molecular foundation between congenital hydrocephalus and iNPH. Through orthogonal partial least squares discriminant analysis (OPLS-DA), a panel comprising 13 proteins has been identified as potential diagnostic biomarkers of iNPH, pending external validation. These findings offer novel insights into the pathophysiology of iNPH, with implications for improved diagnosis.

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