McLean W H, Rugg E L, Lunny D P, Morley S M, Lane E B, Swensson O, Dopping-Hepenstal P J, Griffiths W A, Eady R A, Higgins C
Dept of Anatomy Physiology, University of Dundee, UK.
Nat Genet. 1995 Mar;9(3):273-8. doi: 10.1038/ng0395-273.
Pachyonychia congenita (PC) is a group of autosomal dominant disorders characterized by dystrophic nails and other ectodermal aberrations. A gene for Jackson-Lawler PC was recently mapped to the type I keratin cluster on 17q. Here, we show that a heterozygous missense mutation in the helix initiation motif of K17 (Asn92Asp) co-segregates with the disease in this kindred. We also show that Jadassohn-Lewandowsky PC is caused by a heterozygous missense mutation in the helix initiation peptide of K16 (Leu130Pro). The known expression patterns of these keratins in epidermal structures correlates with the specific abnormalities observed in each form of PC.
先天性厚甲症（PC）是一组常染色体显性疾病，其特征为甲营养不良和其他外胚层异常。杰克逊 - 劳勒型先天性厚甲症的一个基因最近被定位到17号染色体长臂上的I型角蛋白簇。在此，我们表明，在这个家系中，K17螺旋起始基序中的杂合错义突变（Asn92Asp）与该疾病共分离。我们还表明，雅达松 - 莱万多夫斯基型先天性厚甲症是由K16螺旋起始肽中的杂合错义突变（Leu130Pro）引起的。这些角蛋白在表皮结构中的已知表达模式与在每种先天性厚甲症形式中观察到的特定异常情况相关。
