Patient with Mal de Meleda in whom a Novel Gene Mutation was Identified


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Gurel G., ÇİLİNGİR O., Kutluay O., Arslan S., Sahin S., ÇÖLGEÇEN E.

EURASIAN JOURNAL OF MEDICINE, vol.51, no.2, pp.206-208, 2019 (Journal Indexed in ESCI) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 51 Issue: 2
  • Publication Date: 2019
  • Doi Number: 10.5152/eurasianjmed.2018.18215
  • Title of Journal : EURASIAN JOURNAL OF MEDICINE
  • Page Numbers: pp.206-208

Abstract

Mal de Meleda, also known as keratoderma palmoplantaris transgrediens, is a rare type of autosomal recessive palmoplantar keratoderma. A 19yearold male presented with a congenital yellowish discoloration and thickening of both palms and soles of the feet. His family history revealed that there was no consanguinity between the mother and the father and that the patient had three healthy brothers. The secondand thirddegree relatives, five females and one male, also exhibited similar skin findings. From the isolated DNA samples, the extrinsic regions of the SLURP1 gene were screened using the sequence analysis and the Sanger sequencing was performed with the 3130 Sequence Analyzer. Results of this analysis show that a p.Arg 96 Pro (R96P) (c.287 CGA> CCA) homozygous missense point mutation was detected on the SLURP 1 (a secreted toxinlike mammalian lymphocyte antigen 6/urokinasetype plasminogen activator receptorrelated protein 1) gene of the patients, while heterozygous p. Arg 96 Pro (R96P) (c.287 CGA> CCA) mutation was detected in the mother, father, and brothers. Our search of the Human Genome Mutation Database and previous literature revealed no reports of this mutation in mal de Meleda. We report this case due to the identification of a novel gene mutation in a patient with mal de Meleda, a palmoplantar keratoderma.