Exclusion of a PAX6, FOXC1, PITX2, and MYCN mutation in another patient with apple peel intestinal atresia, ocular anomalies and microcephaly and review of the literature.

在另一名苹果皮肠闭锁患者中排除 PAX6 ， FOXC1 ， PITX2 和 MYCN 突变 ，眼部畸形和小头畸形及文献复习。

• 影响指数: 2.578
• 发表时间: Feb 2008 15
• 来源期刊: Am J Med Genet A
• DOI: 10.1002/ajmg.a.32169
• PMID: 18203155
• 文章类型: Case Reports
• 中科院分区: Q3
• 方向: 生物
• 作者列表: van Bever Y,van Hest L,Wolfs R,Tibboel D,van den Hoonaard TL,Gischler SJ

Mesh: DNA Mutational Analysis; Eye Abnormalities / complications genetics; Eye Proteins / genetics; Female; Forkhead Transcription Factors / genetics; Homeodomain Proteins / genetics; Humans; Infant; Intestinal Atresia / complications genetics; Microcephaly / complications genetics; Mutation; N-Myc Proto-Oncogene Protein; Nuclear Proteins / genetics; Oncogene Proteins / genetics; PAX6 Transcription Factor; Paired Box Transcription Factors / genetics; Repressor Proteins / genetics; Transcription Factors / genetics; Homeobox Protein PITX2

Abstract

We describe another patient with the combination of apple peel intestinal atresia, microcephaly, microphthalmia, and anterior eye chamber anomalies. Development so far seems to be normal, although there is major visual impairment due to the corneal clouding. Mutation analysis of the PAX6, FOX1, PITX2, and MYNC genes was normal as was MLPA for these genes. Autosomal recessive inheritance is possible as recurrence in sibs was described, although germ line mosaicism or a microdeletion due to a very small parental translocation cannot be ruled out.

摘要

我们描述了另一位患有苹果皮肠闭锁的患者，小头畸形,小眼症,和前眼房异常.到目前为止，发展似乎很正常，尽管由于角膜混浊而导致严重的视力障碍。PAX6，FOX1，PITX2和MYNC基因的突变分析是正常的，这些基因的MLPA也是正常的。常染色体隐性遗传是可能的，因为描述了同胞的复发，尽管不能排除种系镶嵌性或由于非常小的亲本易位引起的微缺失。