AQP5 MUTATION AS A CAUSE OF PALMOPLANTAR KERATODERMA IN A RUSSIAN FAMILY
https://doi.org/10.25557/2073-7998.2018.07.46-51
Abstract
Hereditary palmoplantar keratoderma (PPK) is characterized by hyperkeratosis of the skin of palms and soles. PPK type Bothnia was described as having a high prevalence in the 2 northernmost provinces of Sweden, situated to the west and the northwest of the Gulf of Bothnia. In Swedish families with dominant PPK researchers established that the phenotype had been linked to the most frequent locus 12q13, but no mutations were found in KRT1. Various missense AQP5-mutations were found in all cases. A three-generation family of Chinese Han ethnicity with AQP5-PPK was described later. In a five-generations Russian PPK family the cause of the disease was searched using the linkage analysis, Senger sequencing, MPS (IlluminaTruSeq® ExomeKit). We found a linkage to locus 12q13. The maximum Lod score of 3.69 was observed on D12S368 (52 631 kb). The area was limited within D12S1661 (48 607kb): Lod - 2.61 = 0 and D12S1586 (54 146 kb): Lod - 3.66 = 0. However, no mutation in KRT1 and over KRT’s genes of this region was revealed. We performed an exome analysis in one of the patients and identified three heterozygous variants in the target region. Two variants in CELA1 and OR8S1 genes did not segregate with the disease in the family and only one AQP5 c.369C>G(p.Asn123Lys) substitution could be a root of the PPC in this family (Lod max — 3.71 = 0.00). We confirmed that the cause of PPK could be mutations in the water-channel aquaporin-5 gene. Our findings have shown that AQP5-PPK can be found in different ethnic groups, not only in Bothnia region.
About the Authors
O. A. Shchagina
Research Centre for Medical Genetics
Russian Federation
Russian Federation
V. P. Fedotov
VOKB #1
Russian Federation
Voronezh.
Russian Federation
Voronezh.
T. V. Fedotova
VOKB #1
Russian Federation
Voronezh.
Russian Federation
Voronezh.
A. V. Polyakov
Research Centre for Medical Genetics
Russian Federation
Russian Federation
References
1. Passarini B, Infusino SD, Kasapi E. Chloracne: still cause for concern. Dermatology 2010; 221: 63-70.
2. Emmert B, Hallier E, Schon MP et al. Disease management guidelines in dermatology: implementation, potentials and limitations exemplified by the guidelines for the management of hand eczema. Hautarzt 2011; 62: 308-14.
3. Schiller S, Seebode C, Hennies HC, Giehl K, Emmert S. Palmoplantar keratoderma (PPK): acquired and genetic causes of a not so rare disease. J Dtsch Dermatol Ges. 2014 Sep;12(9):781-8. doi: 10.1111/ddg.12418. Review. PubMed PMID: 25176457
4. Joh GY, Traupe H, Metze D, Nashan D, Huber M, Hohl D, Longley MA, Rothnagel JA, Roop DR. A novel dinucleotide mutation in keratin 10 in the annular epidermolytic ichthyosis variant of bullous congenital ichthyosiform erythroderma. J Invest Dermatol. 1997 Mar;108(3):357-61.
5. Sybert VP, Francis JS, Corden LD, Smith LT, Weaver M, Stephens K, McLean WH. Cyclic ichthyosis with epidermolytic hyperkeratosis: A phenotype conferred by mutations in the 2B domain of keratin K1. Am J Hum Genet. 1999 Mar;64(3):732-8.
6. Leachman SA, Hickerson RP, Schwartz ME, Bullough EE, Hutcherson SL, Boucher KM, Hansen CD, Eliason MJ, Srivatsa GS, Kornbrust DJ, Smith FJ, McLean WI, Milstone LM, Kaspar RL. First-in-human mutation-targeted siRNA phase Ib trial of an inherited skin disorder. Mol Ther. 2010 Feb;18(2):442-6. doi:10.1038/mt.2009.273.
7. Trochet D, Prudhon B, Vassilopoulos S, Bitoun M. Therapy for dominant inherited diseases by allele-specific RNA interference: successes and pitfalls. Curr Gene Ther. 2015;15(5):503-10. Review. PubMed PMID: 26264709
8. Delavari D, Zywica M, Hartmann M. Sudden onset of acral erythema with hyperkeratosis and pityriasiform scales on soles, fingertips, nose and ear helices. J Dtsch Dermatol Ges 2013; 11: 360-2.
9. Blaydon DC, Etheridge SL, Risk JM et al. RHBDF2 mutations are associated with tylosis, a familial esophageal cancer syndrome. Am J Hum Genet 2012; 90: 340-6.
10. Hsu LI, Chen GS, Lee CH et al. Use of arsenic-induced palmoplantar hyperkeratosis and skin cancers to predict risk of subsequent internal malignancy. Am J Epidemiol 2013; 177: 202-12
11. Venselaar H, Te Beek TA, Kuipers RK, Hekkelman ML, Vriend G. Protein structure analysis of mutations causing inheritable diseases. An e-Science approach with life scientist friendly interfaces. BMC Bioinformatics. 2010 Nov 8;11:548. doi:10.1186/1471-2105-11-548.
12. Рыжкова ОП, Кардымон ОЛ, Прохорчук ЕБ, Коновалов ФА, Масленников АБ, Степанов ВА, Афанасьев АА, Заклязьминская ЕВ, Костарева АА, Павлов АЕ, Голубенко МВ, Поляков АВ, Куцев СИ Руководство по интерпретации данных, полученных методами массового параллельного секвенирования (MPS). Медицинская генетика. 2017 (7): 4-17.
13. Blaydon DC, Lind LK, Plagnol V, Linton KJ, Smith FJ, Wilson NJ, McLean WH, Munro CS, South AP, Leigh IM, O’Toole EA, Lundstrîm A, Kelsell DP Mutations in AQP5, encoding a water-channel protein, cause autosomal-dominant diffuse nonepidermolytic palmoplantar keratoderma. Am J Hum Genet. 2013 Aug 8;93(2):330-5. doi: 10.1016/j.ajhg.2013.06.008.
14. Lind L, Lundstrîm A, Hofer PA, Holmgren G. The gene for diffuse palmoplantar keratoderma of the type found in northern Sweden is localized to chromosome 12q11-q13. Hum Mol Genet. 1994 Oct;3(10):1789-93. PubMed PMID: 7531539
15. Cao X, Yin J, Wang H, Zhao J, Zhang J, Dai L, Zhang J, Jiang H, Lin Z, Yang Y. Mutation in AQP5, encoding aquaporin 5, causes palmoplantar keratoderma Bothnia type. J Invest Dermatol. 2014 Jan;134(1):284-287. doi: 10.1038/jid.2013.302. Epub 2013 Jul 18.
16. Sidhaye VK, Chau E, Srivastava V, Sirimalle S, Balabhadrapatruni C, Aggarwal NR, D’Alessio FR, Robinson DN, King LS. A novel role for aquaporin-5 in enhancing microtubule organization and stability. PLoS One. 2012;7(6):e38717. doi:10.1371/journal.pone.0038717. Epub 2012 Jun 8.
Review
For citations:
Shchagina O.A., Fedotov V.P., Fedotova T.V., Polyakov A.V. AQP5 MUTATION AS A CAUSE OF PALMOPLANTAR KERATODERMA IN A RUSSIAN FAMILY. Medical Genetics. 2018;17(7):46-51. (In Russ.) https://doi.org/10.25557/2073-7998.2018.07.46-51
Views:
1095
Email this article 