Localisation of a gene for Papillon-Lefèvre syndrome to chromosome 11q14-q21 by homozygosity mapping

Laaß, Martin W.; Hennies, Hans Christian; Preis, S.; Stevens, Howard P.; Jung, Martin; Leigh, Irene M.; Wienker, Thomas F.; Reis, André

doi:10.1007/s004390050645

Cited by 66 publications

(40 citation statements)

References 39 publications

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“…PLS is suggested to be because of mutation in cathepsin C gene located on chromosome 11q14.1-q21 [20]. This cathepsin C gene encodes for cysteine lysosomal protease known as dipeptidyl-peptidase I.…”

Section: Discussionmentioning

confidence: 99%

Papillon Lefevre Syndrome: a case report with review

Kaur¹

2013

Dentistry

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Section: Discussionmentioning

confidence: 99%

Papillon Lefevre Syndrome: a case report with review

Kaur¹

2013

Dentistry

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“…Three independent groups (Fischer et al, 1997;Laass et al, 1997;Hart et al, 1998b) Several examples of complex conditions of importance to the dental community include oral clefting, adult periodontitis, oral squamous cell carcinoma, and dental caries. Identification of the molecular targets of environmental agents will help us understand the disease process and develop appropriate treatment strategies.…”

Section: Defining Medical Disciplinesmentioning

confidence: 99%

The Impact of Molecular Genetics on Oral Health Paradigms

Hart

Marazita

Wright

2000

Critical Reviews in Oral Biology & Medicine

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As a result of our increased understanding of the human genome, and the functional interrelationships of gene products with each other and with the environment, it is becoming increasingly evident that many human diseases are influenced by heritable alterations in the structure or function of genes. Significant advances in research methods and newly emerging partnerships between private and public sector interests are creating new possibilities for utilization of genetic information for the diagnosis and treatment of human diseases. The availability and application of genetic information to the understanding of normal and abnormal human growth and development are fundamentally changing the way we approach the study of human diseases. As a result, the issues and principles of medical genetics are coming to bear across all disciplines of health care. In this review, we discuss some of the potential applications of human molecular genetics for the diagnosis and treatment of oral diseases. This discussion is presented in the context of the ongoing technological advances and conceptual changes that are occurring in the field of medical genetics. To realize the promise of this new molecular genetics, we must be prepared to foresee the possibilities and to incorporate these newly emergent technologies into the evolving discipline of dentistry. By using examples of human conditions, we illustrate the broad application of this emerging technology to the study of simple as well as complex genetic diseases. Throughout this paper, we will use the following terminology: Penetrance In a population, defined as the proportion of individuals posessing a disease-causing genotype who express the disease phenotype. When this proportion is less than 100%, the disease is said to have reduced or incomplete penetrance. Polymerase chain reaction (PCR)-A technique for amplifying a large number of copies of a specific DNA sequence flanked by two oligonucleotide primers. The DNA is alternately heated and cooled in the presence of DNA polymerase and free nucleotides, so that the specified DNA segment is denatured, hybridized with primers, and extended by DNA polymerase. MIM-Mendelian Inheritance in Man catalogue number from V. McKusick's Mendelian Inheritance in man (OMIM, 1998).

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“…The CTSC gene consists of 7 exons and is located on chromosome 11q14-q21 (Fischer et al, 1997;Laass et al, 1997). Cathepsin C (Dipeptidyl peptidase I (DPPI); EC 3.4.14.1) is a 200 kDa proteinase that belongs to the papain family of endopeptidases subfamily C1A.…”

Section: Introductionmentioning

confidence: 99%

Loss-of-function mutations in cathepsin C in two families with Papillon-Lefèvre syndrome are associated with deficiency of serine proteinases in PMNs

et al. 2004

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Papillon-Lefèvre syndrome (PLS) is a rare autosomal recessive disease that involves severe periodontitis and hyperkeratosis of the hand palms and foot soles. Recently it was found that PLS patients carry loss-of-function mutations in the gene encoding cathepsin C (CTSC). In the present study we have analyzed the CTSC gene in two unrelated families with PLS. In the first non-consanguineous family, mutation analysis revealed the previously reported c.815G>C/p.R272P mutation. The second consanguineous family displayed a c.1213C>A mutation which resulted in the novel mutation p.H405N and is the first mutation described in the active site of the enzyme. The PLS patients had, next to the absence of cathepsin C activity in polymorphonuclear leukocytes (PMNs), no activity of the three serine proteinases elastase, cathepsin G and proteinase 3. Serine proteinases are supposed to be important in both the innate and adaptive immune systems. Their absence in PLS patients could explain the inadequate defense to periodontal infection.

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Localisation of a gene for Papillon-Lefèvre syndrome to chromosome 11q14-q21 by homozygosity mapping

Cited by 66 publications

References 39 publications

Papillon Lefevre Syndrome: a case report with review

Papillon Lefevre Syndrome: a case report with review

The Impact of Molecular Genetics on Oral Health Paradigms

Loss-of-function mutations in cathepsin C in two families with Papillon-Lefèvre syndrome are associated with deficiency of serine proteinases in PMNs

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