Manifestation of heterozygosity in Papillon‐Lefèvre syndrome?

Kotzot, Dieter; Pfeiffer, R. A.

doi:10.1002/ajmg.1320460229

Cited by 6 publications

(4 citation statements)

References 4 publications

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“…Possible manifestations of heterozygosity in PLS have already been discussed. 53 Since the PLS locus has been recently mapped to chromosome 11q14-q21, 3,4 an exhaustive genetic investigation of both families of the child's parents would be necessary. However, it has also been pointed out that some impairments probably occurred in the antioxidant capacity of the subjects, which had specific importance only in the child.…”

Section: Plasma Antioxidants and Hydroperoxide Concentrationsmentioning

confidence: 99%

Elevated Hydroperoxide Levels and Antioxidant Patterns in Papillon‐Lefèvre Syndrome

Battino¹,

Ferreiro²,

Bompadre³

et al. 2001

Journal of Periodontology

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Since the subjects with the lowest hydroperoxide contents are phenotypically healthy, whereas the affected individuals presented lower antioxidant levels and very high hydroperoxide concentrations, it has been suggested that a specific antioxidant therapy could be a promising approach in treating some PLS subjects. Moreover, unexpected manifestations of heterozygosity in the child of the third generation were also detected.

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Section: Plasma Antioxidants and Hydroperoxide Concentrationsmentioning

confidence: 99%

Elevated Hydroperoxide Levels and Antioxidant Patterns in Papillon‐Lefèvre Syndrome

Battino¹,

Ferreiro²,

Bompadre³

et al. 2001

Journal of Periodontology

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“…These findings are consistent with autosomal recessive transmission of PLS in these families. No family members showed evidence of partial expression of PLS, as has been reported to occur infrequently in PLS [Kotzot and Pfeiffer, 1993;Bullon et al, 1993;Soskolne et al, 1996]. Both early-onset periodontitis and palmoplantar hyperkeratosis were present in all 14 affected individuals.…”

Section: Clinical Findingsmentioning

confidence: 76%

“…Preus has suggested that the periodontal component of PLS may simply be a casual association with PPK, so that individuals without periodontal destruction will be diagnosed with a different form of PPK, and those with periodontal destruction will be diagnosed with PLS [Preus, 1988]. Although apparent partial expression of PLS has been reported [Kotzot and Pfeiffer, 1993;Bullon et al, 1993;Soskolne et al, 1996], the apparent complete segregation of severe early-onset periodontitis with palmoplantar hyperkeratosis in the 19 families reportedly linked to the chromosome 11q14 region in three independent studies to date suggests that the periodontal disease component is not simply an occasional associated finding [present report, Laass et al, 1997;Fischer et al, 1997].…”

Section: Discussionmentioning

confidence: 99%

Sublocalization of the Papillon-Lefevre syndrome locus on 11q14-q21

et al. 1998

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Papillon-Lefevre syndrome (PLS) is an autosomal recessive form of palmoplantar ectodermal dysplasia, characterized by palmoplantar hyperkeratosis and severe early-onset periodontitis. The presence of severe periodontitis distinguishes PLS from other palmoplantar keratodermas. As part of our efforts to study the genetic basis of periodontitis susceptibility, we performed a genome-wide search to identify major loci for PLS in 44 individuals (14 affected) from 10 consanguineous PLS families. We have identified evidence for linkage of a PLS gene on 11q14-q21. A maximum two-point logarithm of the odds (LOD) score of 8.24 was obtained for D11S1367 at a recombination fraction of theta=0.00. Multipoint analysis resulted in a LOD score of 10.45 and placed the gene for PLS within a 4-5 cM genetic interval. This genetic interval, flanked by D11S4197 and D11S931, contains more than 50 cDNAs and 200 expressed sequence tags (ESTs). This refinement of the candidate region for a PLS gene is in agreement with other recent reports of linkage for PLS to chromosome 11q14-q21 and should help in identification of the gene for PLS.

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“…The chromosomal assessment of UPD reflects the number and localization of meiotic recombinations. Mechanisms of formation are trisomy rescue, gamete complementation, mitotic duplication, and postfertilization errors [2]. Problems associated with UPD are (i) placental or even fetal mosaicism mostly because of formation by trisomy rescue, (ii) homozygosity of autosomal recessively inherited mutations and (iii) aberrant genomic imprinting describing parent of origin-dependent gene expression.…”

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confidence: 99%

A multiplex molecular assay for the detection of uniparental disomy for human chromosome 15

et al. 2008

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Uniparental disomy (UPD) describes the inheritance of both homologues of a pair of chromosomes from only one parent. During the last two decades, the clinical impact of UPD and associated imprinting disorders, such as Prader-Willi syndrome (PWS) and Angelman syndrome (AS) increasingly have come to our attention. About 25% of PWS and 3%-5% of AS are a consequence of UPD with the resulting phenotype generated from the parent of origin of the disomic pair of chromosomes 15. Chromosome 15 UPD testing is relevant in various prenatal diagnostic conditions including apparent confined placental mosaicism, homologous and nonhomologous Robertsonian translocations involving chromosome 15 and 14, and as genomic biomarker for detecting chromosome origin. In this work we developed and validated a two fluorescent STRs multiplex assay for a rapid, economic and fully informative detection of UPD 15 by capillary electrophoresis.

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Manifestation of heterozygosity in Papillon‐Lefèvre syndrome?

Cited by 6 publications

References 4 publications

Elevated Hydroperoxide Levels and Antioxidant Patterns in Papillon‐Lefèvre Syndrome

Elevated Hydroperoxide Levels and Antioxidant Patterns in Papillon‐Lefèvre Syndrome

Sublocalization of the Papillon-Lefevre syndrome locus on 11q14-q21

A multiplex molecular assay for the detection of uniparental disomy for human chromosome 15

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