PDF(Pubmed)
Abstract：
UNASSIGNED: Variants in membrane-bound transcription factor peptidase, site 1 (MBTPS1) gene, can result in clinically rare spondyloepiphyseal dysplasia of Kondo-fu type (OMIM #618392, SEDKF), Silver-Russell syndrome, and CAOP (cataract, alopecia, oral mucosal disorder, and psoriasis-like) syndrome.
UNASSIGNED: A 6-year-old Chinese male child diagnosed with SEDKF underwent 3 years of growth hormone therapy. A genetic examination revealed two new nonsense variants in the MBTPS1 gene on chromosome 16q23-q24 with compound heterozygotes c.1589(exon12)A > G and c.163(exon2)G > A.
UNASSIGNED: The MBTPS1 gene c.1589(exon12)A > G and c.163(exon2)G > A on chromosome 16q23-q24 is associated with SEDKF. Growth hormone therapy can repair growth retardation in patients with spondyloepiphyseal dysplasia, Kondo-Fu type; however, more evidence of such patient cases is required to support this hypothesis.
UNASSIGNED: A 6-year-old Chinese male child diagnosed with SEDKF underwent 3 years of growth hormone therapy. A genetic examination revealed two new nonsense variants in the MBTPS1 gene on chromosome 16q23-q24 with compound heterozygotes c.1589(exon12)A > G and c.163(exon2)G > A.
UNASSIGNED: The MBTPS1 gene c.1589(exon12)A > G and c.163(exon2)G > A on chromosome 16q23-q24 is associated with SEDKF. Growth hormone therapy can repair growth retardation in patients with spondyloepiphyseal dysplasia, Kondo-Fu type; however, more evidence of such patient cases is required to support this hypothesis.
摘要：
未经证实：膜结合转录因子肽酶的变体，位点1（MBTPS1）基因，可导致临床上罕见的Kondo-fu型脊柱骨骨发育不良（OMIM#618392，SEDKF），Silver-Russell综合征,和CAOP(白内障，脱发,口腔粘膜疾病，和牛皮癣样）综合征。
未经证实：一名被诊断患有SEDKF的6岁中国男性儿童接受了3年的生长激素治疗。遗传检查发现，染色体16q23-q24上的MBTPS1基因中有两个新的无义变体，具有复合杂合子c.1589（exon12）A>G和c.163（exon2）G>A。
未经证实：染色体16q23-q24上的MBTPS1基因c.1589(exon12)A>G和c.163(exon2)G>A与SEDKF相关。生长激素治疗可以修复脊椎骨发育不良患者的生长迟缓，Kondo-Fu类型；然而，这类病例需要更多的证据来支持这一假设.
未经证实：一名被诊断患有SEDKF的6岁中国男性儿童接受了3年的生长激素治疗。
未经证实：染色体16q23-q24上的MBTPS1基因c.1589(exon12)A>G和c.163(exon2)G>A与SEDKF相关。
