BACKGROUND: Punctate palmoplantar keratoderma (PPK) is a rare autosomal dominant cutaneous disorder characterized by numerous hyperkeratotic papules distributed on the palms and soles. Two loci for punctate PPK were recently found to be located on 8q24.13-8q24.21 and 15q22-15q24. However, no genes for this disease have been identified to date. Objectives To refine the previously mapped regions and to identify the disease gene locus in a four-generation Chinese family with punctate PPK. METHODS: Genetic linkage analysis was carried out in this family using microsatellite markers on chromosomes 8q and 15q. Two-point linkage analysis was performed using Linkage programs version 5.10 and the haplotype was constructed using Cyrillic version 2.02 software. RESULTS: We failed to confirm our previous locus at 8q24.13-8q24.21, but significant evidence for linkage was observed in the region of 15q with a maximum two-point LOD score of 5.38 at D15S153 (theta = 0.00). Haplotype analysis localized the punctate PPK locus within the region defined by D15S651 and D15S988. This region overlaps by 5.06 cM with the previously reported punctate PPK region. CONCLUSIONS: This study refines a disease gene causing punctate PPK to a 5.06-cM interval at 15q22.2-15q22.31.
BACKGROUND: Punctate palmoplantar keratoderma (PPK) is a rare autosomal dominant cutaneous disorder characterized by numerous hyperkeratotic papules distributed on the palms and soles. Two loci for punctate PPK were recently found to be located on 8q24.13-8q24.21 and 15q22-15q24. However, no genes for this disease have been identified to date. Objectives To refine the previously mapped regions and to identify the disease gene locus in a four-generation Chinese family with punctate PPK. METHODS: Genetic linkage analysis was carried out in this family using microsatellite markers on chromosomes 8q and 15q. Two-point linkage analysis was performed using Linkage programs version 5.10 and the haplotype was constructed using Cyrillic version 2.02 software. RESULTS: We failed to confirm our previous locus at 8q24.13-8q24.21, but significant evidence for linkage was observed in the region of 15q with a maximum two-point LOD score of 5.38 at D15S153 (theta = 0.00). Haplotype analysis localized the punctate PPK locus within the region defined by D15S651 and D15S988. This region overlaps by 5.06 cM with the previously reported punctate PPK region. CONCLUSIONS: This study refines a disease gene causing punctate PPK to a 5.06-cM interval at 15q22.2-15q22.31.
Authors: Kathrin A Giehl; Gertrud N Eckstein; Sandra M Pasternack; Silke Praetzel-Wunder; Thomas Ruzicka; Peter Lichtner; Kerstin Seidl; Mike Rogers; Elisabeth Graf; Lutz Langbein; Markus Braun-Falco; Regina C Betz; Tim M Strom Journal: Am J Hum Genet Date: 2012-09-20 Impact factor: 11.025
Authors: Elizabeth Pöhler; Mozheh Zamiri; Catriona P Harkins; Julio C Salas-Alanis; William Perkins; Frances J D Smith; W H Irwin McLean; Sara J Brown Journal: J Invest Dermatol Date: 2013-06-06 Impact factor: 8.551
Authors: Rahaf Bukhari; Waseem Alhawsawi; Aisha Ahmad Radin; Hawazin D Jan; Khalid Al Hawsawi; Marwan Al Ahmadi Journal: Case Rep Dermatol Date: 2019-10-10
Authors: Elizabeth Pohler; Ons Mamai; Jennifer Hirst; Mozheh Zamiri; Helen Horn; Toshifumi Nomura; Alan D Irvine; Benvon Moran; Neil J Wilson; Frances J D Smith; Christabelle S M Goh; Aileen Sandilands; Christian Cole; Geoffrey J Barton; Alan T Evans; Hiroshi Shimizu; Masashi Akiyama; Mitsuhiro Suehiro; Izumi Konohana; Mohammad Shboul; Sebastien Teissier; Lobna Boussofara; Mohamed Denguezli; Ali Saad; Moez Gribaa; Patricia J Dopping-Hepenstal; John A McGrath; Sara J Brown; David R Goudie; Bruno Reversade; Colin S Munro; W H Irwin McLean Journal: Nat Genet Date: 2012-10-14 Impact factor: 38.330