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Identification of novel homozygous SLURP 1 mutation in a Javanese family with Mal de Meleda
Author(s) -
Radiono Sunardi,
Pramono Zacharias A. D.,
Oh Glenda G. K.,
Surana Uttam,
Widiyani Syahfori,
Danarti Retno
Publication year - 2017
Publication title -
international journal of dermatology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.677
H-Index - 93
eISSN - 1365-4632
pISSN - 0011-9059
DOI - 10.1111/ijd.13776
Subject(s) - genetics , palmoplantar keratoderma , medicine , mutation , hyperkeratosis , sibling , family history , exon , dyskeratosis , gene , dermatology , biology , psychology , developmental psychology
Abstract Background Mal de Meleda ( OMIM # 248300; keratosis palmoplantaris transgrediens) is an autosomal recessive form of palmoplantar keratoderma, clinically characterized by sharp demarcated erythema and hyperkeratosis of the palms and soles that progress with age and extend to the dorsal aspects of the hands and feet. The mal de Meleda is caused by mutations in the SLURP 1 gene that encodes secreted lymphocyte antigen 6/urokinase‐type plasminogen receptor‐related protein 1 ( SLURP 1). To date no reported cases from Indonesia. The aims of the study were to describe the typical features of mal de Meleda cases in a Javanese family in Indonesia and identify the mutation in the ARS B gene which encodes SLURP 1 . Patients and Methods In this study, three Javanese patients, siblings from nonconsanguineous nonaffected parents, presented with classical symptoms of mal de Meleda. Genetic analysis screening SLURP 1 gene was conducted for the specimens from the patients and other family members. Results A novel homozygous three‐nucleotide deletion in exon 3, i.e. c.271‐273 TCT del, was identified in the patients. Subcloning and sequencing revealed both parents (I.2 and I.3) and one of the father's siblings (I.1) carry heterozygous c.271‐273 TCT del, while the other father's sibling (I.2), the mother's sister (I.4), and a healthy control matched the ethnicity of the family, showing normal sequence of the entire SLURP 1 . Conclusion This is the first mal de Meleda case of Javanese ethnicity to be documented, and the unique mutation has not previously been reported. The finding supports the notion that despite the rarity, SLURP 1 mutation causing mal de Meleda is ubiquitous.