Alpha 6 beta 4 integrin abnormalities in junctional epidermolysis bullosa with pyloric atresia.
Alpha 6 beta 4 integrin abnormalities in junctional epidermolysis bullosa with pyloric atresia.
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发表时间：
2001
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通讯作者：
G. Ashton;P. Sorelli;J. Mellerio;F. Keane;R. Eady;J. McGrath
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作者：
G. Ashton;P. Sorelli;J. Mellerio;F. Keane;R. Eady;J. McGrath
结合型大疱性表皮细胞瘤伴幽门闭锁（JEB-PA）（MIM 226730）是一种常染色体隐性遗传疾病，由编码α 6 β 4整合素（ITGA 6和ITGB 4）的基因突变引起。临床上，它的特点是粘膜皮肤脆性和胃肠道闭锁，最常见的影响幽门。JEB-PA的其他特征包括泌尿生殖道受累、皮肤发育不全和发育不良。虽然大多数受影响的个体预后不良，导致婴儿期死亡，但其他人的临床特征较轻，预后较好。我们报告了两个先前未描述的ITGB 4纯合子突变在两个无关的家庭，导致严重的皮肤起泡，幽门闭锁和婴儿期死亡。在两个家庭中，对有复发风险的后续妊娠进行基于DNA的产前诊断。我们回顾了所有以前发表的ITGA 6和ITGB 4突变报告，以帮助确定这种罕见的遗传性皮肤病的基因型-表型相关性。
Junctional epidermolysis bullosa with pyloric atresia (JEB-PA) (MIM 226730) is an autosomal recessive disorder resulting from mutations in the genes encoding alpha 6 beta 4 integrin (ITGA6 and ITGB4). Clinically, it is characterized by mucocutaneous fragility and gastrointestinal atresia, which most commonly affects the pylorus. Additional features of JEB-PA include involvement of the urogenital tract, aplasia cutis and failure to thrive. While most affected individuals have a poor prognosis resulting in death in infancy, others have milder clinical features and a better prognosis. We report two previously undescribed homozygous ITGB4 mutations in two unrelated families, which resulted in severe skin blistering, pyloric atresia and lethality in infancy. Delineation of the mutations was used to undertake DNA-based prenatal diagnosis in subsequent pregnancies at risk for recurrence in both families. We review all previously published ITGA6 and ITGB4 mutation reports to help define genotype--phenotype correlation in this rare genodermatosis.