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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