Temtamy Samia A, Männikkö Minna, Abdel-Salam Ghada M H, Hassan Nihal A, Ala-Kokko Leena, Afifi Hanan H
Clinical Genetics Department, Human Genetics and Genome Research Division, National Research Centre, Dokki, Cairo, Egypt.
Am J Med Genet A. 2006 Jun 1;140(11):1189-95. doi: 10.1002/ajmg.a.31205.
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 determining the phenotype. The purpose of this study is to report clinical and radiological findings in two molecularly proven Egyptian sibs with autosomal recessive OSMED.
耳-脊椎-大骨骺发育不良（OSMED）是一种因XI型胶原基因突变导致的非常罕见的疾病。迄今为止，文献报道的患者不足30例。其病因可能为常染色体显性遗传（OMIM 154780）或隐性遗传（OMIM 215150）。本文报告了两名患有OSMED的同胞。他们身材矮小且四肢短小不成比例，面部特征明显，面中部发育不全，鼻子短，鼻梁凹陷，人中长，伴有非进行性感音神经性耳聋。影像学检查结果显示长骨短小，骨骺大，干骺端增宽，伴有轻度椎体扁平及冠状裂。在患病同胞中检测到COL11A2基因第55外显子的单核苷酸缺失纯合子，该缺失导致第56外显子出现过早终止密码子。父母为同一突变的杂合子，有趣的是，父亲有轻度单侧非进行性感音神经性耳聋。这一发现进一步证明，COL11A2基因的突变类型和位置对于决定表型至关重要。本研究的目的是报告两名经分子检测证实患有常染色体隐性遗传OSMED的埃及同胞的临床和影像学检查结果。
