Two cases of autosomal recessive woolly hair with LIPH gene mutations
Two cases of autosomal recessive woolly hair with LIPH gene mutations
复制标题
常染色体隐性羊毛状毛发LIPH基因突变2例
DOI：
10.1111/j.1365-4632.2012.05775.x
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发表时间：
2013
期刊：
影响因子：
3.6
通讯作者：
Shimada S
中科院分区：
文献类型：
--
作者：
Harada K;Inozume T;Kawamura T;Shibagaki N;Kinoshita T;Deguchi N;Shimada S
研究背景羊毛状毛发是一种遗传性疾病，其特征是毛发纤细而紧密卷曲。常染色体隐性羊毛毛（ARWH）最近被确定是由脂肪酶H（LIPH）或LPAR 6（P2 RY 5）基因突变引起的。病例报告一名8岁男孩（先证者）和他11岁的弟弟出现头皮毛发紧密卷曲且稀疏的情况。这些男孩没有心肌病、掌跖角化病或面部畸形。他们的父母有正常的头发生长，没有羊毛状的头发。基因组DNA序列分析显示，先证者及其兄弟均存在LIPH基因c.736T > A纯合突变。在这些研究结果的基础上，这些患者被诊断为ARWH.ConclusionsTo最好的我们所知，只有20例ARWH以前曾在日本报道。然而，一些报告显示，在健康日本对照个体中，在4/200的正常和无关等位基因中检测到一种突变，表明在症状极轻微的患者中存在ARWH。
BackgroundWoolly hair is a hereditary disorder characterized by fine and tightly curled hair. Autosomal recessive woolly hair (ARWH) was recently determined to result from mutations in either the lipase H (LIPH) or theLPAR6(P2RY5) gene.Case reportAn 8‐year‐old boy (proband) and his 11‐year‐old brother presented with tightly coiled and sparse scalp hair. The boys did not have cardiomyopathy, palmoplantar keratoderma, or facial dysmorphism. Their parents had normal hair growth and no woolly hair. The sequence analysis of their genomic DNA revealed that the proband and his brother had a homozygous mutation of c.736T > A in the LIPH gene. On the basis of these findings, these patients were diagnosed with ARWH.ConclusionsTo the best of our knowledge, only 20 cases of ARWH have been previously reported in Japan. However, several reports showed that one mutation was detected in the 4/200 normal and unrelated alleles in healthy Japanese control individuals, indicating the presence of ARWH in patients with extremely mild symptoms.