神经节苷脂诱导分化相关蛋白-1在4A型夏科-马里-图斯病/8q21中发生突变。
Ganglioside-induced differentiation-associated protein-1 is mutant in Charcot-Marie-Tooth disease type 4A/8q21.
作者信息
Baxter Rachel V, Ben Othmane Kamel, Rochelle Julie M, Stajich Jason E, Hulette Christine, Dew-Knight Susan, Hentati Faycal, Ben Hamida Mongi, Bel S, Stenger Judy E, Gilbert John R, Pericak-Vance Margaret A, Vance Jeffery M
机构信息
Center for Human Genetics, Institute of Genomic Sciences and Policy, Research Park Building II Room 105, Box 2903, Duke University Medical Center, Durham, North Carolina 27710, USA.
出版信息
Nat Genet. 2002 Jan;30(1):21-2. doi: 10.1038/ng796. Epub 2001 Dec 17.
We previously localized and fine-mapped Charcot Marie Tooth 4A (CMT4A), the autosomal recessive, demyelinating peripheral neuropathy, to chromosome 8. Through additional positional cloning, we have identified a good candidate gene, encoding ganglioside-induced differentiation-associated protein-1 (GDAP1). We found three different mutations in four different Tunisian families-two nonsense and one missense mutation. How mutations in GDAP1 lead to CMT4A remains to be understood.
我们之前已将常染色体隐性脱髓鞘性周围神经病夏科-马里-图斯病4型（CMT4A）定位并精细定位于8号染色体。通过进一步的定位克隆，我们鉴定出一个很好的候选基因，该基因编码神经节苷脂诱导分化相关蛋白1（GDAP1）。我们在四个不同的突尼斯家族中发现了三种不同的突变——两种无义突变和一种错义突变。GDAP1中的突变如何导致CMT4A仍有待了解。
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