Ghiggeri G M, Caridi G, Altieri P, Pezzolo A, Gimelli G, Zuffardi O
Divisione di Nefrologia, Istituto G. Gaslini, Genova, Italy.
Hum Genet. 1993 Mar;91(2):175-7. doi: 10.1007/BF00222720.
The COL5A1 gene, which encodes the pro alpha 1(V) chain, was recently mapped to 9q34.3 in the same region as the nail-patella locus. This was taken as an indication that the nail-patella syndrome may be an inherited connective tissue disorder. We demonstrate COL5A1 heterozygous deletion and fibroblast under-expression of alpha 1(V) chains in a girl with an unbalanced translocation resulting in 9q32-->qter monosomy. The patient presents dysplastic nails, a sign typical of nail-patella syndrome, but normal patella. Moreover, she has skin and bone disorders similar to those found in the Goltz syndrome. We suggest that monosomy for the COL5A1 gene is responsible for these connective tissue disorders. Accordingly, the nail-patella syndrome could be attributable to mutations inside the COL5A1 gene rather than to a deletion of it.
编码前α1（V）链的COL5A1基因最近被定位到9q34.3，与指甲-髌骨基因座位于同一区域。这被视为指甲-髌骨综合征可能是一种遗传性结缔组织疾病的迹象。我们在一名患有不平衡易位导致9q32→qter单体性的女孩中发现了COL5A1杂合性缺失和成纤维细胞α1（V）链表达不足。该患者表现出发育异常的指甲，这是指甲-髌骨综合征的典型体征，但髌骨正常。此外，她还患有与戈尔茨综合征相似的皮肤和骨骼疾病。我们认为COL5A1基因单体性是这些结缔组织疾病的原因。因此，指甲-髌骨综合征可能归因于COL5A1基因内部的突变而非该基因的缺失。
