Faivre L, Le Merrer M, Lyonnet S, Plauchu H, Dagoneau N, Campos-Xavier A B, Attia-Sobol J, Verloes A, Munnich A, Cormier-Daire V
Département de Génétique et INSERM U393, Hôpital Necker Enfants Malades, Paris, France.
Am J Med Genet. 2002 Nov 1;112(4):379-83. doi: 10.1002/ajmg.10677.
Seckel syndrome is a rare autosomal recessive condition belonging to the group of osteodysplastic primordial "dwarfism" and characterized by the association of 1) severe pre- and postnatal growth retardation, 2) microcephaly with mental retardation, and 3) specific dysmorphic features. Recently, two disease loci have been mapped to chromosomes 3q22.1-q24 and 18p11.31-q11.2, respectively, by homozygosity mapping in consanguineous families. Here, we report on the exclusion of these loci in five consanguineous and one multiplex nonconsanguineous Seckel syndrome families and in two consanguineous families presenting type II osteodysplastic primordial dwarfism. These results support the view that Seckel syndrome is a clinically and genetically heterogeneous condition.
塞克尔综合征是一种罕见的常染色体隐性疾病，属于骨发育不良性原始“侏儒症”，其特征为：1）严重的产前和产后生长迟缓；2）小头畸形伴智力迟钝；3）特定的畸形特征。最近，通过对近亲家庭进行纯合性定位，两个疾病基因座分别被定位到染色体3q22.1-q24和18p11.31-q11.2。在此，我们报告在五个近亲家庭、一个非近亲多重家庭的塞克尔综合征患者以及两个呈现II型骨发育不良性原始侏儒症的近亲家庭中排除了这些基因座。这些结果支持了塞克尔综合征是一种临床和遗传异质性疾病的观点。
