Coexistence of mal de Meleda and congenital cataract in a consanguineous Tunisian family: two case reports.
Coexistence of mal de Meleda and congenital cataract in a consanguineous Tunisian family: two case reports.
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DOI：
10.1186/1752-1947-4-108
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发表时间：
2010-04-20
影响因子：
1
通讯作者：
Elmatri, Leila
中科院分区：
文献类型：
--
作者：
Bchetnia, Mbarka;Merdassi, Ahlem;Elmatri, Leila
简介：Mal de Meleda是一种罕见的掌跖角化病，具有常染色体隐性遗传。其特征是手掌和脚掌的弥漫性红斑和角化过度。最近，已在患有该疾病的家族中鉴定出染色体8q24.3上的ARS（组分B）基因（ARS，MIM：606119）的突变。先天性白内障是一种视觉疾病，可能会干扰视网膜的清晰成像。在热休克转录因子4基因（HSF 4; MIM：602438）的突变可能会导致常染色体显性和常染色体隐性遗传的先天性白内障。病例介绍：一个突尼斯家庭有两个女性同胞45岁和30岁，提出了一个临床协会的马尔德梅勒达和先天性白内障。这两名患者表现为弥漫性掌跖角化病。其中1例患者出现完全后囊下白内障，左眼最佳矫正视力为1/20，右眼仅能数1英尺距离处的手指。另一名女性有轻微的后囊下晶状体混浊，右眼最佳矫正视力为8/10，左眼只能数一英尺远的手指。对他们的ARS基因进行突变分析，发现存在纯合错义突变C99 Y和两个单核苷酸多态性（-55G>C和-60G>C）。剪接突变（c.1327+4A-G）内内含子12的HSF 4基因，这是以前在突尼斯家庭先天性白内障，没有发现在两个先证者在这个family.CONCLUSION：据我们所知，这种原始的临床协会还没有以前的报道。这两种常染色体隐性遗传疾病的关联可能发生在这个家庭，由于高度的近亲繁殖。C99 Y突变可能是突尼斯人口特有的，因为到目前为止，只有三个突尼斯家庭报告了malde Meleda。
INTRODUCTION: Mal de Meleda is a rare form of palmoplantar keratoderma, with autosomal recessive transmission. It is characterized by diffuse erythema and hyperkeratosis of the palms and soles. Recently, mutations in the ARS (component B) gene (ARS, MIM: 606119) on chromosome 8q24.3 have been identified in families with this disorder. Congenital cataract is a visual disease that may interfere with sharp imaging of the retina. Mutations in the heat-shock transcription factor 4 gene (HSF4; MIM: 602438) may result in both autosomal dominant and autosomal recessive congenital cataracts.CASE PRESENTATION: A Tunisian family with two female siblings aged 45 and 30 years, presented with a clinical association of mal de Meleda and congenital cataract. The two patients exhibited diffuse palmoplantar keratodermas. One of them presented with a total posterior subcapsular cataract and had a best corrected visual acuity at 1/20 in the left eye and with the right eye was only able to count fingers at a distance of one foot. The other woman had a slight posterior subcapsular lenticular opacity and her best corrected visual acuity was 8/10 in the right eye and with her left eye she was only able to count fingers at a distance of one foot. A mutational analysis of their ARS gene revealed the presence of the homozygous missense mutation C99Y and two single nucleotide polymorphisms (-55G>C and -60G>C). The splice mutation (c.1327+4A-G) within intron 12 of the HSF4 gene, which has been previously described in Tunisian families with congenital cataract, was not found in the two probands within this family.CONCLUSION: To the best of our knowledge, such original clinical association has not been reported previously. The association of these two autosomal recessive diseases might have occurred in this family due to a high degree of inbreeding. The C99Y mutation may be specific to the Tunisian population as it has been exclusively reported so far in only three Tunisian families with mal de Meleda.