Hirschsprung's disease, acrocallosal syndrome, and congenital hydrocephalus: report of 2 patients and literature review

Nakakimura, Shigeru; Sasaki, Fumio; Okada, Tadao; Arisue, Atsuhiro; Cho, Kazutoshi; Yoshino, Masami; Kanemura, Yonehiro; Yamasaki, Mami; Todo, Satoru

doi:10.1016/j.jpedsurg.2007.12.069

Cited by 23 publications

(14 citation statements)

References 20 publications

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“…Comparative immunohistological analyses of ganglionic and aganglionic segments from patients with HSCR have revealed that the protein expression of L1, but not that of the cell adhesion molecules Thy-1 and alpha5 integrin, is impaired in hypertrophied nerve bundles in aganglionic segments, suggesting a role of L1 in HSCR pathogenesis [59]. In the meantime, HSCR has been diagnosed in several patients with L1 syndrome further suggesting a link between L1 malfunction and HSCR [60][61][62][63][64]. However, it should be noted that, since the incidence of HSCR is low in L1 syndrome patients (about 3%) but probably higher in patients with X-linked hydrocephalus [60], L1 mutations alone are probably not sufficient to cause HSCR.…”

Section: L1 Syndrome In Combination With Hirschsprung's Diseasementioning

confidence: 99%

L1CAM malfunction in the nervous system and human carcinomas

Schäfer

Altevogt

2010

Cell. Mol. Life Sci.

133

134

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Research over the last 25 years on the cell adhesion molecule L1 has revealed its pivotal role in nervous system function. Mutations of the human L1CAM gene have been shown to cause neurodevelopmental disorders such as X-linked hydrocephalus, spastic paraplegia and mental retardation. Impaired L1 function has been also implicated in the aetiology of fetal alcohol spectrum disorders, defective enteric nervous system development and malformations of the renal system. Importantly, aberrant expression of L1 has emerged as a critical factor in the development of human carcinomas, where it enhances cell proliferation, motility and chemoresistance. This discovery promoted collaborative work between tumour biologists and neurobiologists, which has led to a substantial expansion of the basic knowledge about L1 function and regulation. Here we provide an overview of the pathological conditions caused by L1 malfunction. We further discuss how the available data on gene regulation, molecular interactions and posttranslational processing of L1 may contribute to a better understanding of associated neurological and cancerous diseases.

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Section: L1 Syndrome In Combination With Hirschsprung's Diseasementioning

confidence: 99%

L1CAM malfunction in the nervous system and human carcinomas

Schäfer

Altevogt

2010

Cell. Mol. Life Sci.

133

134

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“…To date more than 200 different L1CAM mutations have been published: 130 of these were reviewed in 2001 (Weller and Gartner, 2001) and another 41 were published subsequently (Simonati et al, 2006;Senat et al, 2001;Sztriha et al, 2002;Rodriguez et al, 2003;Silan et al, 2005;Bott et al, 2004;Okamoto et al, 2004;Hubner et al, 2004;Moya et al, 2002;Panayi et al, 2005b;Tegay et al, 2007;Knops et al, 2008;Griseri et al, 2009;Nakakimura et al, 2008;Wilson et al, 2009;Kanemura et al, 2006;De Angelis et al, 2002;Piccione et al, 2009;Wilson et al, 2009). Moreover 52 novel mutations have been detected in our laboratory and were published recently Most mutations have been compiled in the L1CAM Mutation Database, originally constructed by Van Camp et al (Van Camp et al, 1996) and later continued by our group.…”

Section: Introductionmentioning

confidence: 99%

An updated and upgradedL1CAMmutation database

Vos

Hofstra

2010

Hum. Mutat.

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ABSTRACT:The L1 syndrome is an X-linked recessive disease caused by mutations in the L1CAM gene. To date more than 200 different mutations have been reported, scattered over the entire gene, about 35% being missense mutations. Although it is tempting to consider these missense mutations as being disease-causing, one should be careful in drawing any firm conclusions, unless there is additional supporting information. This is in contrast to truncating mutations, which are always considered to be disease-causing, unless they involve truncations close to the gene stop codon. In order to allow conclusions to be drawn on the disease-causing nature of L1CAM (missense) mutations, we have updated and upgraded our LICAM mutation database with more pathogenicity data and clinical information collected from the literature or generated by our own research. As a result, the renewed database offers condensed scientific information, allowing conclusions to be drawn on the pathogenicity and severity of LICAM mutations based on multiple factors. The L1CAM Mutation Database is at: www.l1cammutationdatabase.info.

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“…SNP genotyping indicated that the region from rs727240 to rs721003 (UCSC genome browser hg19 assembly, chromosome X coordinates: 22131639-54454152; 32. The c.92T>C (p.V31A) variant in L1CAM was previously found in a patient with Hirschsprung disease, acrocallosal syndrome, and congenital hydrocephalus (8). L1CAM mutations cause a wide variety of clinical phenotypes: hydrocephalus due to stenosis of the aqueduct of Sylvius (MIM #307000), MASA syndrome (mental retardation, aphasia, shuffling gait, adducted thumb; MIM #303350), and X-linked agenesis of the corpus callosum (MIM #217990).…”

Section: Resultsmentioning

confidence: 99%

Exome sequencing of two patients in a family with atypical X‐linked leukodystrophy

Tsurusaki

Okamoto²,

Suzuki

et al. 2011

Clinical Genetics

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We encountered a family with two boys similarly showing brain atrophy with reduced white matter, hypoplasia of the brain stem and corpus callosum, spastic paralysis, and severe growth and mental retardation without speaking a word. The phenotype of these patients was not compatible with any known type of syndromic leukodystrophy. Presuming an X-linked disorder, we performed next-generation sequencing (NGS) of the transcripts of the entire X chromosome. A single lane of exome NGS in each patient was sufficient. Six potential mutations were found in both affected boys. Two missense mutations, including c.92T>C (p.V31A) in L1CAM, were potentially pathogenic, but this remained inconclusive. The other four could be excluded. Because the patients did not show adducted thumbs or hydrocephalus, the L1CAM change in this family can be interpreted as different scenarios. Personal genome analysis using NGS is certainly powerful, but interpretation of the data can be a substantial challenge requiring a lot of tasks.

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Hirschsprung's disease, acrocallosal syndrome, and congenital hydrocephalus: report of 2 patients and literature review

Cited by 23 publications

References 20 publications

L1CAM malfunction in the nervous system and human carcinomas

L1CAM malfunction in the nervous system and human carcinomas

An updated and upgradedL1CAMmutation database

Exome sequencing of two patients in a family with atypical X‐linked leukodystrophy

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