Novel IL31RA gene mutation and ancestral OSMR mutant allele in familial primary cutaneous amyloidosis

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dc.contributor.authorLin, Ming-Wei
dc.contributor.authorLee, Ding-Dar
dc.contributor.authorLiu, Tze-Tze
dc.contributor.authorLin, Yong-Feng
dc.contributor.authorChen, Shang-Yi
dc.contributor.authorHuang, Chih-Cheng
dc.contributor.authorWeng, Hui-Ying
dc.contributor.authorLiu, Yu-Fen
dc.contributor.authorTanaka, Akio
dc.contributor.authorArita, Ken
dc.contributor.authorLai-Cheong, Joey
dc.contributor.authorPalisson, Francis
dc.contributor.authorChang, Yun-Ting
dc.contributor.authorWong, Chu-Kwan
dc.contributor.authorMatsuura, Isao
dc.contributor.authorMcGrath, John A
dc.contributor.authorTsai, Shih-Feng
dc.date.accessioned2021-10-22T15:01:03Z
dc.date.available2021-10-22T15:01:03Z
dc.date.issued2010
dc.description.abstractPrimary cutaneous amyloidosis (PCA) is an itchy skin disorder associated with amyloid deposits in the superficial dermis. The disease is relatively common in Southeast Asia and South America. Autosomal dominant PCA has been mapped earlier to 5p13.1–q11.2 and two pathogenic missense mutations in the OSMR gene, which encodes the interleukin-6 family cytokine receptor oncostatin M receptor beta (OSMRb), were reported. Here, we investigated 29 Taiwanese pedigrees with PCA and found that 10 had heterozygous missense mutations in OSMR: p.D647V (one family), p.P694L (six families), and p.K697T (three families). The mutation p.P694L was associated with the same haplotype in five of six families and also detected in two sporadic cases of PCA. Of the other 19 pedigrees that lacked OSMR pathology, 8 mapped to the same locus on chromosome 5, which also contains the genes for 3 other interleukin-6 family cytokine receptors, including interleukin-31 receptor A (IL31RA), which can form a heterodimeric receptor with OSMRb through interleukin-31 signaling. In one family, we identified a point mutation in the IL31RA gene, c.1562C4T that results in a missense mutation, p.S521F, which is also sited within a fibronectin type III-like repeat domain as observed in the OSMR mutations. PCA is a genetically heterogeneous disorder but our study shows that it can be caused by mutations in two biologically associated cytokine receptor genes located on chromosome 5. The identification of OSMR and IL31RA gene pathology provides an explanation of the high prevalence of PCA in Taiwan as well as new insight into disease pathophysiologyes
dc.identifier.citationEuropean Journal of Human Genetics (2010) 18, 26–32es
dc.identifier.urihttp://hdl.handle.net/11447/4886
dc.language.isoen_USes
dc.subjectprimary cutaneous amyloidosises
dc.subjectOSMRes
dc.subjectIL31RAes
dc.subjectgenetic heterogeneityes
dc.subjecthaplotypees
dc.titleNovel IL31RA gene mutation and ancestral OSMR mutant allele in familial primary cutaneous amyloidosises
dc.typeArticlees

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