A New Splicing Mutation in the L1CAM Gene Responsible for X-Linked Hydrocephalus (HSAS)

Ferese, Rosangela; Zampatti, Stefania; Griguoli, Anna Maria Pia; Fornai, Francesco; Giardina, Emiliano; Barrano, Giuseppe; Albano, V.; Campopiano, Rosa; Scala, Simona; Novelli, Giuseppe; Gambardella, Stefano

doi:10.1007/s12031-016-0754-3

Cited by 17 publications

(9 citation statements)

References 31 publications

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“…Whole-exome sequencing (WES) and in-depth mutation analysis were then used to analyze the samples from the parents and umbilical cord blood (16). All underlying pathogenic mutants were confirmed by Sanger sequencing (6). Potential mutants were called by Genome Analysis Toolkit (GATK v3.7; https://software.broadinstitute.…”

Section: Case Reportmentioning

confidence: 99%

“…The L1CAM gene is the known causative gene of L1 syndrome. It is close to the telomere on the long arm of the X chromosome and contains 28 exons (6). Mutation of the L1CAM gene may lead to four different X-linked neurological conditions, including hydrocephalus, mental retardation, spasticity of lower limbs and flexion deformity of the thumbs (7,8).…”

Section: Introductionmentioning

confidence: 99%

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Prenatal diagnosis of a nonsense mutation in the L1CAM gene resulting in congenital hydrocephalus: A case report and literature review

et al. 2021

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Congenital hydrocephalus is frequently caused by mutations in the L1 cell adhesion molecule (L1CAM) gene. The purpose of the present study was to identify possible causes of fetal hydrocephalus in a Chinese family. The samples from the parents and the hydrocephalic fetus were collected. Whole-exome sequencing and in-depth mutation analysis were performed. The identified variant, c.1267C>T.(p.Q423X), is situated on exon 11 of L1CAM gene (chromosome X:153134975). The fetus was confirmed to be hemizygous for the nonsense mutation and the mother was a heterozygous carrier. The mutation turns a glutamine into a premature stop codon at amino acid position 423. In conclusion, in the present study, a nonsense mutation in the L1CAM gene was identified during the prenatal diagnosis of a congenital hydrocephalic fetus from a Chinese family. The diagnosis highlighted the necessity of genetic screening for prenatal diagnosis.

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Section: Case Reportmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Prenatal diagnosis of a nonsense mutation in the L1CAM gene resulting in congenital hydrocephalus: A case report and literature review

et al. 2021

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“…The F8C gene responsible for HA is cytogenetically located at Xq28. Also located at Xq28 is the gene LCAM1, 11 which is implicated in the most common genetic cause of congenital hydrocephalus, the X-linked L1 syndrome. 33,36 L1 syndrome also includes central nervous system malformations that are similar to DWM, such as cerebellar hypoplasia, small brainstem, and hypogenesis of the medullary pyramids.…”

Section: Neurosurgical Managementmentioning

confidence: 99%

Management of hydrocephalus in infants with severe hemophilia A: report of 2 cases

Bergin

Dunn

Smith³

et al. 2019

Journal of Neurosurgery: Pediatrics

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The authors report on the clinical course of two infants with severe hemophilia A (HA) and concomitant progressive hydrocephalus that required management with a ventriculoperitoneal shunt. The first child, with known HA, presented with a spontaneous intracranial hemorrhage and acquired hydrocephalus. He underwent cerebrospinal fluid diversion with a temporary external ventricular drain, followed by placement of a ventriculoperitoneal shunt. The second child had hydrocephalus secondary to a Dandy-Walker malformation and was diagnosed with severe HA during preoperative evaluation. He underwent placement of a ventriculoperitoneal shunt after progression of the hydrocephalus. The authors also review the treatment of hydrocephalus in patients with HA and describe the perioperative protocols used in their two cases. Treatment of hydrocephalus in infants with HA requires unique perioperative management to avoid complications.

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“…According to Vos et al's report (Vos et al, 2010), 85% of hydrocephalus fetus were facing L1CAM mutation when they had three or more L1 syndrome-related morphological alterations, and more than one affected relative. Ferese et al (2016) reported that a splicing mutation (NM_000425.4:c.1267 + 5delG) in L1CAM, which produced the skipping of exon 10, could result in hydrocephalus. In Liebau's study (Liebau, Gal, Superti-Furga, Omran, & Pohl, 2007), a mutation at the beginning of intron 18 of L1CAM was related to the agenesis of corpus callosum, adducted thumbs, hydrocephalus, and mental retardation.…”

Section: F I G U R E 1 Pedigree Of the Familymentioning

confidence: 99%

A new frameshift mutation in L1CAM producing X‐linked hydrocephalus

Kong

Wang

Zhao

et al. 2019

Molec Gen & Gen Med

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Background: X-linked hydrocephalus (XLH), characterized by mental retardation and bilateral adducted thumbs, often come out to be a genetic disorder of L1CAM. It codes the protein L1 cell adhesion molecule (L1CAM), playing a crucial role in the development of the nervous system. The objective of the study was to report a new disease-causing mutation site of L1CAM, and gain further insight into the pathophysiology of hydrocephalus. Methods: We collect the samples of a couple and their second hydrocephalic fetus. Then, the whole-exome sequencing and in-depth mutation analysis were performed. Results: The variant c.2491delG (p.V831fs), located in the exon 19 of L1CAM (chrX:153131214), could damage the L1CAM function by producing a frameshift in the translation of fibronectin type-III of L1CAM. Conclusion: We identified a novel disease-causing mutation in L1CAM for the first time, which further confirmed L1CAM as a gene underlying XLH cases. K E Y W O R D S frameshift mutation, L1CAM, X-linked hydrocephalus 2 of 4 | KONG et al. 4 of 4 | KONG et al.of them are unique for each family (Vos et al., 2010). The more disease-causing mutations we found, the more accurate predictions we are able to make.

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A New Splicing Mutation in the L1CAM Gene Responsible for X-Linked Hydrocephalus (HSAS)

Cited by 17 publications

References 31 publications

Prenatal diagnosis of a nonsense mutation in the L1CAM gene resulting in congenital hydrocephalus: A case report and literature review

Prenatal diagnosis of a nonsense mutation in the L1CAM gene resulting in congenital hydrocephalus: A case report and literature review

Management of hydrocephalus in infants with severe hemophilia A: report of 2 cases

A new frameshift mutation in L1CAM producing X‐linked hydrocephalus

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