Nijmegen breakage syndrome in 13% of age-matched Czech children with primary microcephaly

Seeman, Pavel; Gebertová, Kateřina; Paděrová, Kateřina; Sperling, Karl; Seemanová, E

doi:10.1016/j.pediatrneurol.2003.07.003

Cited by 31 publications

(17 citation statements)

References 13 publications

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“…In particular, microcephaly has been reported in 100% of patients with NBS, and 13% of Czech children with primary microcephaly were affected by NBS (Seeman et al 2004). This suggests a screening for NBS1 gene mutations in all children affected by primary microcephaly, because this can be sufficient for detecting all NBS homozygotes expected on the basis of population frequency, and can lower the mean age at diagnosis from the current 7 years to less than 1 year.…”

Section: Discussionmentioning

confidence: 99%

Screening of Nijmegen Breakage Syndrome 1 Mutations in Four Unrelated Families by Polymerase Chain Reaction Using Sequence-Specific Primers

Masi

Antoccia²,

Spadoni³

et al. 2006

Genetic Testing

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Nijmegen breakage syndrome (NBS) is an autosomal recessive disorder characterized by a marked predisposition to lymphoreticular malignancies. The rarity of the disease and the presence, in several cases, of a mild clinical phenotype make diagnosis difficult. The underlying gene, NBS1, consists of 16 exons and encodes nibrin, a member of the hMRE11/hRAD50/hNBS1 protein complex. In addition to the "Slavic mutation," 657del5, identified in more than 100 patients with NBS, 9 other mutations have been found in families of different ethnic origin. We have developed a polymerase chain reaction (PCR) method to rapidly detect the private mutations, 742insGG and 835del4, in exon 7 and the 900del25 mutation in exon 8 of the NBS1 gene. In particular, we designed NBS1-specific primers for wild-type and mutated alleles, and optimized a specific PCR protocol for each mutation. We used this method to analyze 4 unrelated NBS families, 3 from Italy and 1 from Morocco. We believe it could be a useful tool for: (1) confirming the NBS diagnosis in the presence of clinical signs of the disease; (2) identifying NBS heterozygotes and performing prenatal diagnosis in families with affected members; and (3) screening selected populations in which the frequency of NBS might be higher because of a founder effect.

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Section: Discussionmentioning

confidence: 99%

Screening of Nijmegen Breakage Syndrome 1 Mutations in Four Unrelated Families by Polymerase Chain Reaction Using Sequence-Specific Primers

Masi

Antoccia²,

Spadoni³

et al. 2006

Genetic Testing

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“…Because of their congenital microcephaly and Slavic origin, both children were tested for the NBS1 mutation 657del5 at the age of 2 months. The mutation analysis was carried out as previously described 5 and it was found that both children were heterozygous for the Slavic mutation. In an attempt to find a second mutation, further analysis of the NBS1 gene was carried out.…”

Section: Mutation Analysismentioning

confidence: 99%

Nijmegen breakage syndrome (NBS) with neurological abnormalities and without chromosomal instability

Seemanová

Sperling²,

Neitzel³

et al. 2005

Journal of Medical Genetics

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“…It has been reported in Italy, France, Great Britain, U.S.S.R., Argentina, and Chile. The total number of patients alone in North America is estimated to be about 200 [7]. No sex prediction is recognized for The subject of the case study was a 13 years old girl with Nijmegen breakage syndrome (NBS), having mild mental retardation and age inappropriate language skills.…”

Section: General Characteristicsmentioning

confidence: 99%

Speech impairment in Nijmegen breakage syndrome: A rare anomaly

Gupta

Nagarkar

2009

International Journal of Pediatric Otorhinolaryngology

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Nijmegen breakage syndrome in 13% of age-matched Czech children with primary microcephaly

Cited by 31 publications

References 13 publications

Screening of Nijmegen Breakage Syndrome 1 Mutations in Four Unrelated Families by Polymerase Chain Reaction Using Sequence-Specific Primers

Screening of Nijmegen Breakage Syndrome 1 Mutations in Four Unrelated Families by Polymerase Chain Reaction Using Sequence-Specific Primers

Nijmegen breakage syndrome (NBS) with neurological abnormalities and without chromosomal instability

Speech impairment in Nijmegen breakage syndrome: A rare anomaly

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