EB患者突变数据库 EB patients mutation database
EB Patient Detail Information
Patient ID | 243 |
Gene1 | COL7A1 |
Mutation1 | c.6900+3G>C |
Protein1,蛋白质变化1 | |
Effect1,突变的影响1 | c.6900+3G>C 变异为 HGMD 数据库收录的已知变异:Yun-zhu MU 等人报道了一个痒疹型大疱性表皮松解症大家系,先证者四肢伸肌反复出现大疱、糜烂、瘙痒结节和萎缩斑块,COL7A1 基因序列分析显示先证者及其母亲和女儿都携带该杂合变异(PP4,PP1);RT-PCR实验显示该突变实际上导致 exon87 缺失,直接在 exon86 和 exon88 之间剪接,造成 VII 型胶原α1 多肽中 23 个氨基酸残基的缺失,从而影响了三螺旋结构的折叠,从而降低了粘附功能,进而形成了皮损(PS3_ |
Gene2 | |
Mutation2 | |
Protein2,蛋白质变化2 | |
Effect2,突变的影响2 | |
Inheritance,遗传模式 | Dominant |
Subtype,类型和亚型 | DDEB pruriginosa |
Gender,性别 | Female |
Ethnicity,种族民族 | Han |
Clinical Age,检查检测时的年龄 | 20 |
Affected Area,皮损面积,如generalized, pretibial | erythema, blisters, erosions, scars, keloids, granulation tissue, hyperpigmentation, hypopigmentation. chronic wound 4.5-10% of surface area |
Blister, 有无水疱及严重程度 | blisters on the left shank, skewed thrumb on birth. |
Milia,粟丘疹有无,多少,位置 | |
Atrophic Scar,有无萎缩性疤痕 | |
Keratoderma,有无角化过度 | |
Nail,甲是否缺失及发育不良 | pachyonychia, but normal nails |
Hand,是否有并指 | |
Cocoon Hand,是否有茧套状并指 | |
Feet,脚趾是否并指 | |
Granulation,伤口表面是否有肉芽增生 | |
Anemia,是否有贫血及严重程度 | |
Oral Erosion,口腔溃疡情况 | |
Teeth,龋齿,釉质缺失,脱落等情况 | |
Genitourinary Tract,有无尿道狭窄,疼痛 | |
Respiratory Tract,有无嘶哑的情况 | |
SCC,有无鳞状细胞癌,数量,位置 | |
Hair Loss,少发,脱发 | |
Itch,有无瘙痒及严重程度 | itch score 8. frequently itch, happens in the daytime, night, evening, and before sleeping. intensify with hot and nervous conditions. good sleep. drugs ineffective |
Swallow,有无吞咽困难 | normal food and no defecation problem. |
Others,其它特别的情况 | slightly corneal blister and erosion. corneal scars. 症状信息来自上海新华医院皮肤科 |
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