Familial Primary Localized Cutaneous Amyloidosis Results from Either Dominant or Recessive Mutations in OSMR

Wali, Abdul; Liu, Lu; Takeichi, Takuya; Jelani, Musharraf; Rahman, Obaid Ur; Heng, Yee Kiat; Thng, Steven; Lee, Joyce; Akiyama, Masashi; McGrath, John A.; Betz, Regina C.

doi:10.2340/00015555-2104

Cited by 11 publications

(14 citation statements)

References 16 publications

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“…Based on these results, we speculate some individuals with OSMR mutations who are apparently healthy when young will develop PLCA symptoms as they age, but in addition, we suspect the existence of OSMR expressivity differences between different individuals. Our data suggest that the p.Gly513Asp mutation in Family A may act as both a dominant and a recessive mutation, which has been reported previously in a family from Malaysia . However, the factors that influence the presence or absence of fPLCA with heterozygous OSMR mutation are currently unknown.…”

Section: Discussionsupporting

confidence: 71%

“…Most fPLCA cases show autosomal dominant inheritance, although autosomal recessive inheritance has also been reported in two large pedigrees with fPLCA . In the current study, Families K and L presented probable autosomal recessive inheritance, and two cases from these two families harboured the homozygous p.Gly513Asp mutation, and their parents were likely to have the heterozygous mutation without symptoms whereas, in Families A, D and G, five unaffected subjects carried the heterozygous p.Gly513Asp (shown in Fig.…”

Section: Discussionsupporting

confidence: 59%

“…Our data suggest that the p.Gly513Asp mutation in Family A may act as both a dominant and a recessive mutation, which has been reported previously in a family from Malaysia. 17 However, the factors that influence the presence or absence of fPLCA with heterozygous OSMR mutation are currently unknown. Intriguingly, none of the known OSMR mutations was found in the two cases from Families F or I, but the presence of an IL31RA mutation cannot be excluded in these two patients.…”

Section: Discussionmentioning

confidence: 99%

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Clinical and genetic features of Chinese patients with lichen and macular primary localized cutaneous amyloidosis

Lü

Rong

et al. 2019

Clin Exp Dermatol

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Summary Background Primary localized cutaneous amyloidosis (PLCA) is a chronic pruritic skin disorder. The genetic basis of familial (f)PLCA involves mutations in the oncostatin M receptor (OSMR) and interleukin‐31 receptor A (IL31RA) genes, but the disease pathophysiology is not fully understood. Aim To investigate the OSMR mutation spectrum in patients with sporadic (s)PLCA/fPLCA, lichen/macular PLCA in mainland China. Methods This study was carried out on 64 patients with sPLCA, along with 36 with fPLCA and 10 unaffected individuals collected from 23 unrelated Chinese families. Genomic DNA was extracted from peripheral blood samples. Mutation screening of 17 OSMR exons was performed by Sanger sequencing. Results PLCA lesions are typically localized to the shins, forearm and back. Sequence analysis of OSMR exons demonstrated that the OSMR missense mutation rate in patients with fPLCA (63.89%) was significantly higher than that in patients with sPLCA (34.38%). The male/female ratio of patients carrying a homozygous OSMR mutation (0.29) was significantly lower than that of patients carrying a heterozygous OSMR mutation (1.08; P < 0.05) and of patients with wildtype OSMR (1.75; P < 0.01). Age of onset of PLCA with OSMR homozygous mutation (median age 20 years) was earlier than that of PLCA with OSMR heterozygous mutation (median age 32 years; P < 0.01) or PLCA with wildtype genotype (median age 32 years; P < 0.01). Conclusion The present data indicate OSMR mutations as not only the main cause of fPLCA, but also the potential source of the pathogenesis of sPLCA, although the exact molecular mechanism remains unknown.

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Section: Discussionsupporting

confidence: 71%

Section: Discussionsupporting

confidence: 59%

Section: Discussionmentioning

confidence: 99%

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Clinical and genetic features of Chinese patients with lichen and macular primary localized cutaneous amyloidosis

Lü

Rong

et al. 2019

Clin Exp Dermatol

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“…Recent studies pointed out that the mutation on OSMR might arouse familial primary localized cutaneous amyloidosis (Wali et al, 2015).…”

Section: Discussionmentioning

confidence: 99%

LINC00520 targeting miR‐27b‐3p regulates OSMR expression level to promote acute kidney injury development through the PI3K/AKT signaling pathway

Tian

Liang

et al. 2019

Journal Cellular Physiology

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Background Acute kidney injury (AKI) shows several kinds of disorders, which acutely harm the kidney. However, the current medical methods have limited therapeutic effects. The present study aimed to find out the molecular mechanism of AKI pathogenesis, which may provide new insights for future therapy. Methods Bioinformatic analysis was conducted using the R language (AT&T BellLaboratories, University of Auckland, New Zealand) to acquire the differentially expressed long noncoding RNAs (lncRNAs) and messenger RNAs (mRNAs) in AKI. The expression levels of RNAs and related proteins in tissues and cells were detected by quantitative real‐time PCR (qRT‐PCR) and western blot. Dual‐luciferase reporter gene assays were performed to verify the target relationship between microRNA (miRNA) and lncRNA as well as miRNA and mRNA. Flow cytometry and tunnel assay were used to detect the cell apoptotic rate in AKI. Results LINC00520, miR‐27b‐3p, and OSMR form an axis to regulate AKI. Knockdown of LINC00520 reduced acute renal injury both in vitro and in vivo. LINC00520 activated the PI3K/AKT pathway to aggravate renal ischemia/reperfusion injury, while upregulation of miR‐27b‐3p or downregulation of OSMR could accelerate the recovery of AKI. Conclusion Overexpression of LINC00520 contributes to the aggravation of AKI by targeting miR‐27b‐3p/ OSMR.

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“…Primary localized cutaneous amyloidosis (PLCA) refers to a group of chronic itchy skin disorders characterized by amyloid deposits in the upper dermis. Familial PLCA results from either dominant or recessive mutations in OSMR , encoding oncostatin M receptor beta, or less commonly, from autosomal dominant mutations in IL31RA , encoding interleukin‐31 receptor alpha . Amyloidosis cutis dyschromica (ACD) is another rare variant of PLCA, characterized by reticular areas of hyperpigmentation with overlying hypopigmented macules and localized keratinocyte‐derived amyloid deposition within the papillary dermis .…”

mentioning

confidence: 99%

Molecular basis and inheritance patterns of amyloidosis cutis dyschromica

et al. 2020

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Familial Primary Localized Cutaneous Amyloidosis Results from Either Dominant or Recessive Mutations in OSMR

Cited by 11 publications

References 16 publications

Clinical and genetic features of Chinese patients with lichen and macular primary localized cutaneous amyloidosis

Clinical and genetic features of Chinese patients with lichen and macular primary localized cutaneous amyloidosis

LINC00520 targeting miR‐27b‐3p regulates OSMR expression level to promote acute kidney injury development through the PI3K/AKT signaling pathway

Molecular basis and inheritance patterns of amyloidosis cutis dyschromica

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