Lower K M, Gecz J
Centre for Medical Genetics, Department of Cytogenetics and Molecular Genetics, Women's and Children's Hospital, North Adelaide, Australia.
Am J Med Genet. 2001 Apr 15;100(1):43-8. doi: 10.1002/ajmg.1189.
Börjeson-Forssman-Lehmann syndrome (BFLS) is a syndromic X-linked mental retardation that has been mapped by linkage to Xq26-q27. A nonsyndromic mental retardation family, MRX27, has also been localized to a region of the X chromosome overlapping Xq26-q27. The gene for ARHGEF6 (also known as alphaPIX or Cool-2), a newly identified guanine nucleotide exchange factor, was identified as a potential candidate XLMR gene, due to its location within the BFLS and MRX27 critical regions and its function in the regulation of PAK3 (a known MRX gene). The full coding sequence and genomic structure of the gene for ARHGEF6 was established in silico, based on available genomic, EST, and cDNA sequence information. Mutation analysis in BFLS- and MRX27-affected individuals was carried out. No mutations were found in two BFLS families or MRX27. Although ARHGEF6 is unlikely to be the gene responsible for either BFLS or MRX27, it remains a prime candidate for nonspecific or syndromic mental retardation linked to Xq26.
博尔杰松-福斯曼-莱曼综合征（BFLS）是一种与X染色体连锁的综合征性智力发育迟缓疾病，已通过连锁分析定位到Xq26-q27区域。一个非综合征性智力发育迟缓家系MRX27也被定位到X染色体上与Xq26-q27重叠的区域。ARHGEF6基因（也称为αPIX或Cool-2）是一种新发现的鸟嘌呤核苷酸交换因子，由于其位于BFLS和MRX27关键区域内，且在PAK3（一个已知的MRX基因）的调节中发挥作用，因此被确定为潜在的X连锁智力发育迟缓候选基因。基于现有的基因组、EST和cDNA序列信息，通过计算机分析确定了ARHGEF6基因的完整编码序列和基因组结构。对受BFLS和MRX27影响的个体进行了突变分析。在两个BFLS家系或MRX27中未发现突变。尽管ARHGEF6不太可能是导致BFLS或MRX27的基因，但它仍然是与Xq26相关的非特异性或综合征性智力发育迟缓的主要候选基因。
