LIM–kinase deleted in Williams syndrome

Tassabehji, Mayada; Metcalfe, Kay; Fergusson, William; Carette, Martin J.; Dore, Jonathan K.; Donnai, Dian; Read, Andrew P.; Pröschel, Christoph; Gutowski, N. J.; Mao, Xin; Sheer, Denise

doi:10.1038/ng0796-272

Cited by 130 publications

(81 citation statements)

References 7 publications

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“…This assumption is based on reports of children, affected by an isolated SVAS and a visuospatial impairment, with a partial deletion of the WBS region comprising only the genes ELN and LIMK1 [43,172]. In contrast to these facts, other reports on individuals with partial deletion of the WBS region encompassing the LIMK1 region do not display weakness in spatial cognition [44,173]. Limk1 knock out mice display insufficiency in re-learning spatial information.…”

Section: The Single Copy Gene Part Of the Wbs Regionmentioning

confidence: 99%

The genomic basis of the Williams – Beuren syndrome

Schubert

2008

Cell. Mol. Life Sci.

213

161

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. The Williams-Beuren syndrome is a genomic disorder (prevalence: 1/7,500 to 1/20,000), caused by a hemizygous contiguous gene deletion on chromosome 7q11.23. Typical symptoms comprise supravalvular aortic stenosis, mental retardation, overfriendliness and visuospatial impairment. The common deletion sizes range of 1.5–1.8 mega base pairs (Mb), encompassing app. 28 genes. For a few genes, a genotype-phenotype correlation has been established. The best-explored gene within this region is the elastin gene; its haploinsufficiency causes arterial stenosis. The region of the Williams-Beuren syndrome consists of a single copy gene region (~1.2 Mb) flanked by repetitive sequences – Low Copy Repeats (LCR). The deletions arise as a consequence of misalignment of these repetitive sequences during meiosis and a following unequal crossing over due to high similarity of LCRs. This review presents an overview of the Williams-Beuren syndrome region considering the genomic assembly, chromosomal rearrangements and their mechanisms (i.e. deletions, duplications, inversions) and evolutionary and historical aspects.

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Section: The Single Copy Gene Part Of the Wbs Regionmentioning

confidence: 99%

The genomic basis of the Williams – Beuren syndrome

Schubert

2008

Cell. Mol. Life Sci.

213

161

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“…LIMK signaling has received a lot of attention since it was found to be one of the genes heterozygously deleted in Williams syndrome (WS: Williams-Beuren syndrome), a rare (1 in 25000) genetic disorder [78]. Patients with this syndrome suffer from a variety of abnormalities, including mild MR, cardiovascular problems, distinctive craniofacial features, poor visual-motor integration, attention deficits, and at times hyperactivity.…”

Section: Pak3mentioning

confidence: 99%

Rho-linked genes and neurological disorders

Kasri

Aelst

2007

Pflugers Arch - Eur J Physiol

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Mental retardation (MR) is a common cause of intellectual disability and affects approximately 2 to 3 % of children and young adults. MR has been consistently associated with changes in dendrites and dendritic spine structure. Given that dendritic spine morphology has been tightly linked to synaptic activity, altered spine morphology has been suggested to be the underlying cause of cognitive disabilities observed in MR. The structure and dynamics of dendritic spines is determined by its underlying actin cytoskeleton. Signaling molecules and cascades important for cytoskeletal regulation have therefore naturally attracted a great deal of attention. As key regulators of both the actin and microtubule cytoskeletons, it is not surprising that the Rho GTPases have emerged as important regulators of dendrite and spine structural plasticity. In support of this, mutations in regulators and effectors of Rho GTPases have been associated with diseases affecting the nervous system, including MR and amyotropic lateral sclerosis (ALS). Here we will discuss Rho GTPase related genes and their signaling pathways involved in MR and ALS.

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“…Autosomal dominant inheritance has been found in familial WS patients (Sadler et al 1993, almost all patients with WS having hemizygosity at the elastin (ELN) locus and submicroscopic deletions of chromosome 7q11.23 (Ewart et al 1993, Kotzot et al 1995, Nickerson et al 1995. LIM-kinase 1 (LIMK1) and the replication factor C subunit 2 (RFC2), have recently been identified in the deleted chromosomal region of the 3Ј flanking ELN gene (Frangiskakis et al 1996, Tassabehji et al 1996, Osborne et al 1996. Infantile spasms have a wide variety of etiologies and originate from genetically heterogeneous causes.…”

Section: Introductionmentioning

confidence: 99%

Interstitial deletion of chromosome 7q in a patient with Williams syndrome and infantile spasms

et al. 1998

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Interstitial deletion of 7q11.23-q21.11 was identified by cytogenetic methods in a 4-year-old boy with Williams syndrome (WS) and infantile spasms. Deletion of the elastin (ELN) gene and the DNA polymorphic markers, D7S1870, D7S2490, D7S2518, and D7S2421, were identified in the patient, but the loci for D7S653 and D7S675 were not involved. Zackowski et al. (1990) reported that 6 of 16 patients with the interstitial deletion of 7q11.2-q22 had abnormal electro encephalograms, or seizures, or both, and that infantile spasms were present in 2 of the 6 patients. WS is a well defined developmental disorder characterized by distinct facial features, gregarious personality, and congenital heart defects. Seizures are not generally associated with this syndrome. WS commonly is characterized by deletion of the loci for ELN and D7S1870, but not those for D7S2490, D7S2518, or D7S2421. This suggests that a gene responsible for infantile spasms is located in the 2.7-cM interval between loci D7S1870 and D7S675.

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LIM–kinase deleted in Williams syndrome

Cited by 130 publications

References 7 publications

The genomic basis of the Williams – Beuren syndrome

The genomic basis of the Williams – Beuren syndrome

Rho-linked genes and neurological disorders

Interstitial deletion of chromosome 7q in a patient with Williams syndrome and infantile spasms

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