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

Human Genetics
M W LaassA Reis

Abstract

Papillon-Lefèvre syndrome is an autosomal recessively inherited palmoplantar keratoderma of unknown aetiology associated with severe periodontitis leading to premature loss of dentition. Three consanguineous families, two of Turkish and one of German origin, and three multiplex families, one of Ethiopian and two of German origin, with 11 affected and 6 unaffected siblings in all were studied. A targeted genome search was initially attempted to several candidate gene regions but failed to demonstrate linkage. Therefore a genome-wide linkage scan using a combination of homozygosity mapping and traditional linkage analysis was undertaken. Linkage was obtained with marker D11S937 with a maximum two-point lod score of Zmax = 6.1 at recombination fraction theta = 0.00 on chromosome 11q14-q21 near the metalloproteinase gene cluster. Multipoint likelihood calculations gave a maximum lod score of 7.35 between D11S901 and D11S1358. A 9.2-cM region homozygous by descent in the affected members of the three consanguineous families lies between markers D11S1989 and D11S4176 harbouring the as yet unknown Papillon-Lefèvre syndrome gene. Haplotype analyses in all the families studied support this localisation. This study has identified a furth...Continue Reading

Citations

Oct 25, 2003·Journal of the American Academy of Dermatology·Ulrike PilgerElisabeth Aberer
Dec 29, 1998·Journal of Dermatological Science·A Ishida-YamamotoH Iizuka
Apr 28, 1999·Molecular Medicine Today·D P Kelsell, H P Stevens
Feb 9, 2000·Journal of Medical Genetics·T C HartA Zlorogorski
Jul 15, 2003·BMC Medical Genetics·Veeriah SelvarajuArun Kumar
Jan 29, 2002·Journal of Periodontology·M BattinoP Bullon
Apr 2, 2002·Journal of Periodontology·Vanessa F CuryMarcot Luiz De
Jul 7, 2011·Journal of Indian Society of Periodontology·Varsha J Rathod, Nilesh V Joshi
Jan 1, 2014·Gene·Morteza MoghaddasianMohammad Reza Abbaszadegan
Jul 17, 2001·Periodontology 2000·J Meyle, J R Gonzáles
Jul 17, 2001·Periodontology 2000·P Hodge, B Michalowicz
Sep 1, 2005·Journal of Clinical Periodontology·Bruno G LoosMarja L Laine
Feb 25, 2005·The British Journal of Dermatology·V F CuryL De Marco
Sep 15, 2006·Journal of Clinical Periodontology·B SchacherP Eickholz
Feb 17, 2001·The Journal of Investigative Dermatology·A NakanoJ Uitto
Feb 22, 2000·Critical Reviews in Oral Biology and Medicine : an Official Publication of the American Association of Oral Biologists·T C HartJ T Wright
Dec 8, 2016·The FEBS Journal·Stephanie KettererThomas Reinheckel
Sep 19, 1998·American Journal of Medical Genetics·T C HartE Firatli
Dec 23, 1998·Endocrine Reviews·A J Clark, A Weber
Nov 27, 2015·The FEBS Journal·Yveline HamonBrice Korkmaz
Jul 20, 2002·The Journal of Dermatology·Walai-orn Pratchyapruit, Preya Kullavanijaya
Sep 26, 2000·Oral Diseases·H NittaI Ishikawa
Apr 30, 2017·QJM : Monthly Journal of the Association of Physicians·T ChaubalP Wadkar
Mar 1, 2002·Journal of Periodontology·Vanessa F CuryLuiz De Marco
Jun 10, 2006·Journal of Pediatric Ophthalmology and Strabismus·Pinar SaatciSalih Kavakçu

❮ Previous
Next ❯

Related Concepts

Trending Feeds

COVID-19

Coronaviruses encompass a large family of viruses that cause the common cold as well as more serious diseases, such as the ongoing outbreak of coronavirus disease 2019 (COVID-19; formally known as 2019-nCoV). Coronaviruses can spread from animals to humans; symptoms include fever, cough, shortness of breath, and breathing difficulties; in more severe cases, infection can lead to death. This feed covers recent research on COVID-19.

Blastomycosis

Blastomycosis fungal infections spread through inhaling Blastomyces dermatitidis spores. Discover the latest research on blastomycosis fungal infections here.

Nuclear Pore Complex in ALS/FTD

Alterations in nucleocytoplasmic transport, controlled by the nuclear pore complex, may be involved in the pathomechanism underlying multiple neurodegenerative diseases including Amyotrophic Lateral Sclerosis and Frontotemporal Dementia. Here is the latest research on the nuclear pore complex in ALS and FTD.

Applications of Molecular Barcoding

The concept of molecular barcoding is that each original DNA or RNA molecule is attached to a unique sequence barcode. Sequence reads having different barcodes represent different original molecules, while sequence reads having the same barcode are results of PCR duplication from one original molecule. Discover the latest research on molecular barcoding here.

Chronic Fatigue Syndrome

Chronic fatigue syndrome is a disease characterized by unexplained disabling fatigue; the pathology of which is incompletely understood. Discover the latest research on chronic fatigue syndrome here.

Evolution of Pluripotency

Pluripotency refers to the ability of a cell to develop into three primary germ cell layers of the embryo. This feed focuses on the mechanisms that underlie the evolution of pluripotency. Here is the latest research.

Position Effect Variegation

Position Effect Variagation occurs when a gene is inactivated due to its positioning near heterochromatic regions within a chromosome. Discover the latest research on Position Effect Variagation here.

STING Receptor Agonists

Stimulator of IFN genes (STING) are a group of transmembrane proteins that are involved in the induction of type I interferon that is important in the innate immune response. The stimulation of STING has been an active area of research in the treatment of cancer and infectious diseases. Here is the latest research on STING receptor agonists.

Microbicide

Microbicides are products that can be applied to vaginal or rectal mucosal surfaces with the goal of preventing, or at least significantly reducing, the transmission of sexually transmitted infections. Here is the latest research on microbicides.