A genetic analysis of the papillon‐lefèvre syndrome in a Jewish family from Cochin

Hacham‐Zadeh, Shoshana; Schaap, Tamar; Mm, Cohen

doi:10.1002/ajmg.1320020206

Cited by 19 publications

(14 citation statements)

References 8 publications

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“…The discrepancy between the estimated high gene frequency for the disease allele in this inbred population (0.1), and the absence of affected subjects in other kindreds of the isolate, led Hacham-Zadeh et al 5 to suggest that the syndrome may not behave as a simple autosomal recessive trait. They hypothesised that that a “complex” autosomal recessive inheritance pattern with a closely linked dominant modifier locus may be responsible for the condition 5. They acknowledged that this was not the only possible explanation but that it was not possible to test other hypotheses.…”

Section: Discussionmentioning

confidence: 81%

“…Yet the HMS phenotype has been reported to occur in only nine sibships in this population 2. In a genetic analysis that included five of the affected sibships from the Cochin kindred segregating the syndromic features first described by Haim and Munk,1 Hacham-Zadeh et al 5 were able to document parental consanguinity in only one of these sibships. Based in part on this finding, they estimated the disease allele frequency to be 0.1 in the Cochin population.…”

Section: Discussionmentioning

confidence: 85%

“…While the periodontium in HMS was reported to be less severely affected than in PLS, gingival inflammation and alveolar bone destruction are present and severe (fig1E, F). In a subsequent genetic study of this extended family, Hacham-Zadeh et al 5 concluded that the syndrome might not behave as a simple autosomal recessive trait. Based upon their estimate of the disease allele frequency in this population (0.1), the absence of the condition in other kindred of the Cochin isolate, and an inability to document consanguinity for many of the parents of affected subjects, they hypothesised that a “complex” autosomal recessive inheritance pattern with a closely linked dominant modifier locus may be responsible for the HMS phenotype.…”

mentioning

confidence: 89%

“…The unique presence of severe, early onset periodontitis distinguishes PLS and HMS from other PPKs and raises the question of whether they result from the variable clinical expression of a common gene mutation, are allelic mutations at the same genetic locus, or result from expression of gene mutations at separate loci. Although the initial report of Haim and Munk1proposed that HMS was a distinct entity, Hacham-Zadeh et al 5 referred to the disorder as Papillon-Lefèvre syndrome and cited the suggestion of Gorlin et al 7that HMS was a clinical variant of PLS. In his review of published cases of PLS, Haneke8 summarises an extensive list of clinical findings reported in PLS affected subjects, including increased susceptibility to infections, ectopic cranial calcifications, and nail anomalies 9.…”

mentioning

confidence: 99%

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Haim-Munk syndrome and Papillon-Lefevre syndrome are allelic mutations in cathepsin C

Hart

Michalec

et al. 2000

Journal of Medical Genetics

206

183

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Of the many palmoplantar keratoderma (PPK) conditions, only Papillon-Lefèvre syndrome (PLS) and Haim-Munk syndrome (HMS) are associated with premature periodontal destruction. Although both PLS and HMS share the cardinal features of PPK and severe periodontitis, a number of additional findings are reported in HMS including arachnodactyly, acroosteolysis, atrophic changes of the nails, and a radiographic deformity of the fingers. While PLS cases have been identified throughout the world, HMS has only been described among descendants of a religious isolate originally from Cochin, India. Parental consanguinity is a characteristic of many cases of both conditions. Although autosomal recessive transmission of PLS is evident, a more "complex" autosomal recessive pattern of inheritance with phenotypic influences from a closely linked modifying locus has been hypothesised for HMS. Recently, mutations of the cathepsin C gene have been identified as the underlying genetic defect in PLS. To determine if a cathepsin C mutation is also responsible for HMS, we sequenced the gene in aVected and unaVected subjects from the Cochin isolate in which both the PLS and HMS phenotypes appear. Here we report identification of a mutation of cathepsin C (exon 6, 2127A→ G) that changes a highly conserved amino acid in the cathepsin C peptide. This mutation segregates with HMS in four nuclear families. Additionally, the existence of a shared common haplotype for genetic loci flanking the cathepsin C gene suggests that aVected subjects descended from the Cochin isolate are homozygous for a mutation inherited "identical by descent" from a common ancestor. This finding supports simple autosomal recessive inheritance for HMS in these families. We also report a mutation of the same exon 6 CTSC codon (2126C→T) in a Turkish family with classical PLS. These findings provide evidence that PLS and HMS are allelic variants of cathepsin C gene mutations. (J Med Genet 2000;37:88-94)

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Section: Discussionmentioning

confidence: 81%

Section: Discussionmentioning

confidence: 85%

mentioning

confidence: 89%

mentioning

confidence: 99%

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Haim-Munk syndrome and Papillon-Lefevre syndrome are allelic mutations in cathepsin C

Hart

Michalec

et al. 2000

Journal of Medical Genetics

206

183

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“…Hence, the name Haim-Munk syndrome (HMS) was introduced. Since then, it is considered by some clinicians as a variant of PLS [35,67,68]. However, other clinicians distinguished HMS as a separate disorder owing to the presence of additional features different from PLS [29].…”

Section: Atypical Plsmentioning

confidence: 99%

Syndromes That Include Both Palmoplantar Keratoderma And Severe Periodontitis: A Review

Dababneh¹

2013

Dentistry

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Palmoplantar keratodermas (PPK) include a heterogeneous group of disorders with overlapping clinical features. The main aspect of PPK is thickening and hyperkeratosis of the palmar and plantar skin, that may be hereditary or acquired; diffuse, focal, or punctuate; and transgrediens or progrediens. PPKs are further distinguished by their mode of inheritance and by the presence of certain associated clinical features. Periodontitis was reported in association with more than one syndrome characterized by PPK. An extensively reported one is the Papillon-Lefévre syndrome (PLS) which is characterized by early onset of PPK and periodontitis affecting the primary and secondary dentitions. In addition to PLS, Haim-Munk, HOPP, Variant Carvajal and Weary-Kindler are other syndromes manifested by PPK and reported in association with severe periodontitis. Atypical cases of PLS were also reported, such as partial expression or a late presentation of the syndrome. The aim of this article is to critically review the literature concerned with Papillon-Lefévre syndrome in its typical and atypical clinical presentation, in addition to other syndromes manifested at the same time by PPK and severe periodontitis.Thorough history and medical examination, together with periodontal, dermatologic, and genetic counseling, are important to exclude other existing medical conditions or other syndromes that might need special attention and care.

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Malignant Melanoma and Papillon-Lefèvre Syndrome

Hacham‐Zadeh¹,

Goldberg

1982

Arch Dermatol

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A genetic analysis of the papillon‐lefèvre syndrome in a Jewish family from Cochin

Cited by 19 publications

References 8 publications

Haim-Munk syndrome and Papillon-Lefevre syndrome are allelic mutations in cathepsin C

Haim-Munk syndrome and Papillon-Lefevre syndrome are allelic mutations in cathepsin C

Syndromes That Include Both Palmoplantar Keratoderma And Severe Periodontitis: A Review

Malignant Melanoma and Papillon-Lefèvre Syndrome

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