L�ri-Weill syndrome as part of a contiguous gene syndrome at Xp22.3

Spranger, Stephanie; Schiller, Simone; Jauch, Anna; Wolff, Kathrin; Rauterberg‐Ruland, Inge; Hager, Dieter; Tariverdian, Gholamali; Tröger, J.; Rappold, Gudrun

doi:10.1002/(sici)1096-8628(19990423)83:5<367::aid-ajmg5>3.0.co;2-k

Cited by 50 publications

(34 citation statements)

References 27 publications

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“…However, another affected brother with the deletion in Xp22.3 does not have seizures. Spranger et al 15reported a mentally retarded patient with a terminal Xp22.3 deletion and myoclonic epilepsy. The breakpoint of the deletion was distal to GS1 .…”

Section: Discussionmentioning

confidence: 99%

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Interstitial deletion in Xp22.3 is associated with X linked ichthyosis, mental retardation, and epilepsy

Gohlke

2000

Journal of Medical Genetics

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We describe monozygotic male twins with an interstitial deletion of Xp22.3 including the steroid sulphatase gene (STS). The twins had X linked ichthyosis, X linked mental retardation, and epilepsy. A locus for X linked mental retardation has been assigned to a region between STS and DXS31 spanning approximately 3 Mb. Recently the locus was further refined to an approximately 1 Mb region between DXS1060 and GS1. By PCR analysis of flanking STS gene markers in our patients we succeeded in narrowing down the locus to between DXS6837 and GS1. (J Med Genet 2000;37:600-602)

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Section: Discussionmentioning

confidence: 99%

“…DXS6837 and DXS6834 were not tested in this study. Since the patient described by Spranger et al 15 had mental retardation, the putative MRX locus may be included in the deletion. Therefore, in this patient the distal part of the deletion present in our patients may also be deleted.…”

Section: Discussionmentioning

confidence: 99%

Interstitial deletion in Xp22.3 is associated with X linked ichthyosis, mental retardation, and epilepsy

Gohlke

2000

Journal of Medical Genetics

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“…Seizures have been recently reported in association with distal deletions in the pseudoautosomal region of the short arm, involving band Xp22.3 (218,219). These were apparently generalized convulsive seizures and myoclonic seizures.…”

Section: Deletion On the Short Arm Of Chromosome Xmentioning

confidence: 93%

Chromosomal Abnormalities and Epilepsy: A Review for Clinicians and Gene Hunters

et al. 2002

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Summary:Purpose: We analyzed databases on chromosomal anomalies and epilepsy to identify chromosomal regions where abnormalities are associated with clinically recognizable epilepsy syndromes. The expectation was that these regions could then be offered as targets in the search for epilepsy genes.Methods: The cytogenetic program of the Oxford Medical Database, and the PubMed database were used to identify chromosomal aberrations associated with seizures and/or EEG abnormalities. The literature on selected small anomalies thus identified was reviewed from a clinical and electroencephalographic viewpoint, to classify the seizures and syndromes according to the current International League Against Epilepsy (ILAE) classification.Results: There were 400 different chromosomal imbalances described with seizures or EEG abnormalities. Eight chromosomal disorders had a high association with epilepsy. These comprised: the Wolf-Hirschhorn (4p-) syndrome, MillerDieker syndrome (del 17p13.3), Angelman syndrome (del 15q11-q13), the inversion duplication 15 syndrome, terminal deletions of chromosome 1q and 1p, and ring chromosomes 14 and 20. Many other segments had a weaker association with seizures. The poor quality of description of the epileptology in many reports thwarted an attempt to make precise karyotypephenotype correlations.Conclusions: We identified certain chromosomal regions where aberrations had an evident association with seizures, and these regions may be useful targets for gene hunters. New correlations with specific epilepsy syndromes were not revealed. Clinicians should continue to search for small chromosomal abnormalities associated with specific epilepsy syndromes that could provide important clues for finding epilepsy genes, and the epileptology should be rigorously characterized.

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“…3 Pubertal development and fertility are generally normal in both sexes with LWD. The molecular basis for LWD [4][5][6] is haploinsufficiency for the gene SHOX (short stature homeobox-containing gene), which is located on the distal part of the X chromosome pseudoautosomal region (PAR1). SHOX deletions or mutations have been detected in 60% to 100% of LWD cases.…”

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confidence: 99%

The Phenotype of Short Stature Homeobox Gene (SHOX) Deficiency in Childhood: Contrasting Children with Leri-Weill Dyschondrosteosis and Turner Syndrome

Ross

Kowal²,

Quigley³

et al. 2005

The Journal of Pediatrics

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L�ri-Weill syndrome as part of a contiguous gene syndrome at Xp22.3

Cited by 50 publications

References 27 publications

Interstitial deletion in Xp22.3 is associated with X linked ichthyosis, mental retardation, and epilepsy

Interstitial deletion in Xp22.3 is associated with X linked ichthyosis, mental retardation, and epilepsy

Chromosomal Abnormalities and Epilepsy: A Review for Clinicians and Gene Hunters

The Phenotype of Short Stature Homeobox Gene (SHOX) Deficiency in Childhood: Contrasting Children with Leri-Weill Dyschondrosteosis and Turner Syndrome

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