Ishida-Yamamoto A, McGrath J A, Lam H, Iizuka H, Friedman R A, Christiano A M
Department of Dermatology, Asahikawa Medical College, Japan.
Am J Hum Genet. 1997 Sep;61(3):581-9. doi: 10.1086/515518.
The erythrokeratodermas (EKs) are a group of disorders characterized by erythematous plaques associated with variable features that include palmoplantar keratoderma. One type of EK is known as "progressive symmetric erythrokeratoderma" (PSEK). We studied members of a family of Japanese origin in which the index case with PSEK had had well-demarcated nonmigratory erythematous plaques on her extremities since birth. Sequence determination of the loricrin gene revealed an insertion of a C following nucleotide 709. The mutation results in a frameshift that changes the terminal 91 amino acids in the wild-type polypeptide into missense amino acids and adds 65 additional residues. This further implicates loricrin defects in the pathogenesis of disorders with palmoplantar keratoderma and pseudoainhum.
红皮角化病（EKs）是一组以红斑性斑块为特征的疾病，伴有包括掌跖角化病在内的多种不同特征。其中一种EK被称为“进行性对称性红皮角化病”（PSEK）。我们研究了一个日本血统的家族成员，该家族中的首例PSEK患者自出生以来四肢就有边界清晰、不扩散的红斑性斑块。兜甲蛋白基因的序列测定显示在核苷酸709之后插入了一个C。该突变导致移码，使野生型多肽的末端91个氨基酸变为错义氨基酸，并额外增加了65个残基。这进一步表明兜甲蛋白缺陷在伴有掌跖角化病和假阿洪病的疾病发病机制中起作用。
