Use of a set of highly polymorphic minisatellite probes for the identification of cryptic 1p36.3 deletions in a large collection of patients with idiopathic mental retardation

Giraudeau, Fabienne; Taine, Laurence; Biancalana, Valérie; Delobel, Bruno; Journel, Hubert; Missirian, Chantal; Lacombe, Didier; Bonneau, Dominique; Parent, Philippe; Aubert, Dominique; Hauck, Yolande; Croquette, M. F.; Toutain, Annick; Mattéi, Marie Geneviève; Loiseau, Hervé Avet; David, Albert; Vergnaud, Gilles

doi:10.1136/jmg.38.2.121

Cited by 23 publications

(22 citation statements)

References 17 publications

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“…They also showed that the breakpoints were highly variable within 1p36 and that 21 out of 27 de novo deletions were maternally derived. Using five highly polymorphic minisatellite probes for 1p36.3, Giraudeau et al 21 found three 1p− patients among 567 mentally retarded subjects and Rio et al 14 found three patients among 150 severely mentally retarded patients, making it one of the more common cryptic subtelomeric deletions.…”

Section: Clinical Studiesmentioning

confidence: 99%

Telomeres: a diagnosis at the end of the chromosomes

Vries

Winter

Schinzel³

et al. 2003

Journal of Medical Genetics

215

190

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Section: Clinical Studiesmentioning

confidence: 99%

Telomeres: a diagnosis at the end of the chromosomes

Vries

Winter

Schinzel³

et al. 2003

Journal of Medical Genetics

215

190

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“…Chromosomal distribution of minisatellites in the human genome is highly skewed toward telomeres and ancestrally telomeric regions (Amarger et al 1998). Highly polymorphic minisatellites are thus a good tool for detection of microdeletions in the ends of chromosomes, associated with human pathologies such as mental retardation (Giraudeau et al 2001). Polymorphic minisatellites are also found in bacterial genomes (Le Fleche et al 2001), in which they have proven to be a powerful tool for bacterial strain identification.…”

mentioning

confidence: 99%

Predicting Human Minisatellite Polymorphism

Denœud¹,

Vergnaud²,

Benson³

2003

Genome Res.

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We seek to define sequence-based predictive criteria to identify polymorphic and hypermutable minisatellites in the human genome. Polymorphism of a representative pool of minisatellites, selected from human chromosomes 21 and 22, was experimentally measured by PCR typing in a population of unrelated individuals. Two predictive approaches were tested. One uses simple repeat characteristics (e.g., unit length, copy number, nucleotide bias) and a more complex measure, termed HistoryR, based on the presence of variant motifs in the tandem array. We find that HistoryR and percentage of GC are strongly correlated with polymorphism and, as predictive criteria, reduce by half the number of repeats to type while enriching the proportion with heterozygosity ≥0.5, from a background level of 43% to 59%. The second approach uses length differences between minisatellites in the two releases of the human genome sequence (from the public consortium and Celera). As a predictor, this similarly enriches the number of polymorphic minisatellites, but fails to identify an unexpectedly large number of these. Finally, typing of the highly polymorphic minisatellites in large families identified one new hypermutable minisatellite, located in a predicted coding sequence. This may represent the first coding human hypermutable minisatellite

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“…These data suggested to exclude the involvement of GABRD in the neurological manifestations [36]. Moreover, the 1p36.32 region was found deleted in a small percentage of isolated MR [16], in a number of patients presenting with mild MR and/or behavioral problems and/or learning disability [12,24,25,26,27,28] and in a patient presenting with MR and altered regulation of the circadian rhythm such as sleeping disorders [26]. These observations suggest that PLCH2 might be a putative candidate gene for the brain/mental alterations due to its role in the central nervous system.…”

Section: Discussionmentioning

confidence: 99%

“…Deletions involving a smaller region, 1p36.3, were identified in 0.5–0.7% of isolated MR [16], suggesting that this might represent the critical region containing one or more genes contributing to the neurological manifestations.…”

Section: Introductionmentioning

confidence: 99%

Role of Phosphoinositide-Specific Phospholipase C η2 in Isolated and Syndromic Mental Retardation

Vasco

2011

Eur Neurol

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Deletions in the distal region of the short arm of chromosome 1 (1p36) are widely diffuse, both as somatic abnormalities in tumors and as constitutive in the congenital 1p36 deletion syndrome. The deletion size varies from 1.5 to 10 Mb, with common breakpoints located from 1p36.13 to 1p36.33. Patients bearing constitutional deletion of a smaller region, 1p36.3, present with a number of features, including mental retardation. The gene PLCH2, codifying for the phosphoinositide-specific phospholipase C (PI-PLC) η2, maps on the 1p36.32 region. PI-PLC η2, expressed in the brain after birth, is a key enzyme in cellular calcium mobilization. In the brain, calcium plays a role in axon growth and retraction, growth cone guidance, synapse formation, and responses to various neurotransmitters. For its role in the nervous system, PI-PLC η2 might be a putative candidate gene for the neurodevelopmental delay observed in patients bearing 1p36.3 deletions.

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Use of a set of highly polymorphic minisatellite probes for the identification of cryptic 1p36.3 deletions in a large collection of patients with idiopathic mental retardation

Cited by 23 publications

References 17 publications

Telomeres: a diagnosis at the end of the chromosomes

Telomeres: a diagnosis at the end of the chromosomes

Predicting Human Minisatellite Polymorphism

Role of Phosphoinositide-Specific Phospholipase C η2 in Isolated and Syndromic Mental Retardation

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