Autosomal recessive spastic paraplegia (SPG45) with mental retardation maps to 10q24.3-q25.1
Autosomal recessive spastic paraplegia (SPG45) with mental retardation maps to 10q24.3-q25.1
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DOI：
10.1007/s10048-009-0191-3
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发表时间：
2009-10-01
期刊：
影响因子：
2.2
通讯作者：
Tolun, Aslihan
中科院分区：
文献类型：
--
作者：
Dursun, Umut;Koroglu, Cigdem;Tolun, Aslihan
遗传性痉挛性截瘫（HSP）的特征是下肢进行性痉挛。它们在临床上是异质性的，并且已知纯形式以及具有其他伴随临床发现的复杂形式。HSP在遗传上也是异质的。我们进行了临床和遗传学研究，在一个有五个受影响的成员的近亲家庭。使用405个微卫星标记对该家族的8个成员进行基因组扫描，确定了候选基因位点，随后在16个成员中进行精细定位，确定了负责HSP的基因位点。临床表现为极早发性痉挛性截瘫（SPG），伴有智力低下和眼部体征。该基因位于第10号染色体上102.05-106.64 Mbp之间。对患者进行MRPL 43基因分析。未检测到突变，但检测到高水平的mRNA。我们已经将一种新的HSP常染色体隐性遗传复杂型（SPG 45）定位于10q24.3-q25.1的4.6-Mbp区域，多点对数比值分数> 4.5。
Hereditary spastic paraplegias (HSPs) are characterized by progressive spasticity in the lower limbs. They are clinically heterogeneous, and pure forms as well as complicated forms with other accompanying clinical findings are known. HSPs are also genetically heterogeneous. We performed clinical and genetic studies in a consanguineous family with five affected members. A genome scan using 405 microsatellite markers for eight members of the family identified candidate gene loci, and subsequent fine mapping in 16 members identified the gene locus responsible for the HSP. The clinical manifestations were very early onset spastic paraplegia (SPG) accompanied by mental retardation and ocular signs. The gene locus was identified as the interval 102.05-106.64 Mbp on chromosome 10. Gene MRPL43 was analyzed in the patients. No mutation but high levels of mRNA were detected. We have mapped a novel autosomal recessive complicated form of HSP (SPG45) to a 4.6-Mbp region at 10q24.3-q25.1 with multipoint logarithm of odds scores > 4.5.