title: A novel splice site mutation in ANTXR2 (CMG2) gene results in systemic hyalinosis.
abstract: Systemic hyalinosis is a rare autosomal recessive inheritance disease characterized by accumulation of amorphous, unidentified hyaline material in skin and other organs, which leads to papulonodular skin lesions, gingival hypertrophy, flexion contractures of the joints, and large subcutaneous tumors. It is composed of 2 allelic syndromes, infantile systemic hyalinosis and juvenile hyaline fibromatosis. Here we describe a patient with juvenile hyaline fibromatosis confirmed by clinical and histopathologic findings, and genetic analysis, which revealed a novel homozygous splice site mutation IVS14+1G→T on exon 14 in anthrax toxin receptor 2 gene.
authors: Department of Medical Genetics, Affiliated Qingdao Municipal Hospital of Qingdao University Medical College, Qingdao, Shandong, China.
authors: Yun-Ying
authors: YY
authors: Wang
authors: Cheng-Quan
authors: CQ
authors: Wen
authors: Zhen
authors: Z
authors: Wei
authors: Xin
authors: X
authors: Jin
mesh_terms: D002648:Child; D005091:Exons / Q000235:genetics; D005260:Female; D006720:Homozygote; D006801:Humans; D057770:Hyaline Fibromatosis Syndrome / Q000235:genetics* / Q000473:pathology*; D008565:Membrane Proteins / Q000235:genetics*; D022821:RNA Splice Sites / Q000235:genetics*; D018000:Receptors, Peptide
chemical_list: C447150:ANTXR2 protein, human; D008565:Membrane Proteins; D022821:RNA Splice Sites; D018000:Receptors, Peptide