Berry V, Francis P, Reddy M A, Collyer D, Vithana E, MacKay I, Dawson G, Carey A H, Moore A, Bhattacharya S S, Quinlan R A
Department of Molecular Genetics, Institute of Ophthalmology, London EC1V 9EL, United Kingdom.
Am J Hum Genet. 2001 Nov;69(5):1141-5. doi: 10.1086/324158. Epub 2001 Sep 27.
Congenital cataracts are an important cause of bilateral visual impairment in infants. In a four-generation family of English descent, we mapped dominant congenital posterior polar cataract to chromosome 11q22-q22.3. The maximum LOD score, 3.92 at recombination fraction 0, was obtained for marker D11S898, near the gene that encodes crystallin alpha-B protein (CRYAB). By sequencing the coding regions of CRYAB, we found in exon 3 a deletion mutation, 450delA, that is associated with cataract in this family. The mutation resulted in a frameshift in codon 150 and produced an aberrant protein consisting of 184 residues. This is the first report of a mutation, in this gene, resulting in isolated congenital cataract.
先天性白内障是婴儿双侧视力损害的一个重要原因。在一个英裔的四代家族中，我们将显性先天性后极性白内障定位到11号染色体q22-q22.3区域。在编码α-B晶状体蛋白（CRYAB）的基因附近，标记D11S898在重组率为0时获得了最大LOD分数3.92。通过对CRYAB编码区进行测序，我们在外显子3中发现了一个缺失突变450delA，该突变与这个家族的白内障有关。该突变导致第150位密码子移码，并产生了一个由184个残基组成的异常蛋白。这是该基因中导致孤立性先天性白内障的突变的首次报道。
