Clinical Genetics Department, Human Genetics and Genome Research Division, National Research Centre, Cairo, Egypt.
Am J Med Genet A. 2011 Nov;155A(11):2885-96. doi: 10.1002/ajmg.a.34299. Epub 2011 Oct 11.
The designation microcephalic osteodysplastic primordial dwarfism (MOPD) refers to a group of autosomal recessive disorders, comprising microcephaly, growth retardation, and a skeletal dysplasia. The different types of MOPD have been delineated on the basis of clinical, radiological, and genetic criteria. We describe two brothers, born to healthy, consanguineous parents, with intrauterine and postnatal growth retardation, microcephaly with abnormal gyral pattern and partial agenesis of corpus callosum, and skeletal anomalies reminiscent of those described in MOPD type I. This was confirmed by the identification of the homozygous g.55G > A mutation of RNU4ATAC encoding U4atac snRNA. The sibs had yellowish-gray hair, fair skin, and deficient retinal pigmentation. Skin biopsy showed abnormal melanin function but OCA genes were normal. The older sib had an intracranial hemorrhage at 1 week after birth, the younger developed chilblains-like lesions at the age 2½ years old but analysis of the SAMHD1 and TREX1 genes did not show any mutations. To the best of our knowledge, vasculopathy and pigmentary disorders have not been reported in MOPD I.
先天性小头-骨发育不良性矮小-性幼稚综合征（MOPD）的名称是指一组常染色体隐性疾病，包括小头畸形、生长迟缓以及骨骼发育不良。根据临床、影像学和遗传学标准，已经确定了不同类型的 MOPD。我们描述了一对兄弟，他们出生于健康的近亲父母，存在宫内和产后生长迟缓、头部异常小、脑回模式异常和胼胝体部分发育不全，以及骨骼异常，类似于 MOPD I 型所描述的骨骼异常。这是通过鉴定 RNU4ATAC 编码 U4atac snRNA 的 homozygous g.55G > A 突变来确认的。这对兄弟的头发呈黄灰色，皮肤白皙，视网膜色素沉着不足。皮肤活检显示黑色素功能异常，但 OCA 基因正常。哥哥在出生后 1 周时发生颅内出血，弟弟在 2 岁半时出现冻疮样病变，但 SAMHD1 和 TREX1 基因分析未发现任何突变。据我们所知，MOPD I 中尚未报道过血管病变和色素障碍。
