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首页> 外文期刊>American journal of medical genetics, Part A >Oto-spondylo-megaepiphyseal dysplasia (OSMED): clinical and radiological findings in sibs homozygous for premature stop codon mutation in the COL11A2 gene.
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Oto-spondylo-megaepiphyseal dysplasia (OSMED): clinical and radiological findings in sibs homozygous for premature stop codon mutation in the COL11A2 gene.

机译：耳滑膜巨e性骨发育不良（OSMED）：纯合子同胞中COL11A2基因过早终止密码子突变的临床和放射学发现。

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摘要

Oto-spondylo-megaepiphyseal dysplasia (OSMED) is a very rare disorder due to mutation of type XI collagen. Less than 30 patients have been reported in the literature so far. It could be either of autosomal dominant (OMIM 154780) or recessive (OMIM 215150) etiology. Two sibs with OSMED are presented. They had disproportionate short stature and short limbs, distinct face with midface hypoplasia, short nose, depressed nasal bridge, long philtrum, and non-progressive sensorineural deafness. Radiological findings showed short long bones and large epiphyses with metaphyseal flaring and mild platyspondyly and coronal clefting. Homozygosity of a single nucleotide deletion in exon 55 causing a premature stop codon in exon 56 of COL11A2 was detected in the affected sibs. Parents were heterozygotes for the same mutation and interestingly, the father had mild unilateral non-progressive sensorineural deafness. This finding adds more weight that the type of mutation and location in COL11A2 are crucial in determiningthe phenotype. The purpose of this study is to report clinical and radiological findings in two molecularly proven Egyptian sibs with autosomal recessive OSMED.
机译：由于XI型胶原蛋白的突变，耳滑膜巨e性骨发育不良（OSMED）是一种非常罕见的疾病。迄今为止，文献中报道的患者不足30名。它可能是常染色体显性（OMIM 154780）或隐性（OMIM 215150）病因。介绍了两个带有OSMED的同胞。他们的身材矮小和四肢短小，面部中部发育不全，鼻子短，鼻梁凹陷，长发和非进行性感觉神经性耳聋。影像学检查结果显示，骨骼短而长，骨epi大，干meta端张开，轻度椎弓根和冠状裂。在受影响的同胞中检测到外显子55中单核苷酸缺失的纯合性，导致COL11A2外显子56中的终止密码子过早终止。父母是同一突变的杂合子，有趣的是，父亲患有轻度的单侧非进行性感觉神经性耳聋。这一发现增加了更多的权重，表明COL11A2中的突变类型和位置对于确定表型至关重要。本研究的目的是报告常染色体隐性隐性OSMED的两个经过分子验证的埃及同胞的临床和放射学发现。

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