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

被引：12

作者：

van Bever, Yolande ^{[1
]}

van Hest, Liselotte ^{[1
]}

Wolfs, Roger ^{[2
]}

Tibboel, Dick ^{[3
]}

van den Hoonaard, Thelma L. ^{[3
]}

Gischler, Saskia J. ^{[3
]}

机构：

[1] Sophia Childrens Univ Hosp, Dept Clin Genet, Erasmus MC, NL-3000 XX Rotterdam, Netherlands

[2] Sophia Childrens Univ Hosp, Dept Ophthalmol, Erasmus MC, NL-3000 XX Rotterdam, Netherlands

[3] Sophia Childrens Univ Hosp, Dept Paediat Surg, Erasmus MC, NL-3000 XX Rotterdam, Netherlands

来源：

AMERICAN JOURNAL OF MEDICAL GENETICS PART A | 2008年 / 146A卷 / 04期

关键词：

apple peel intestinal atresia; microcephaly; PAX6; FOXC1; PITX2; MYCN; anterior eye chamber anomalies; Axenfeld-Rieger; Peters anomaly; microphthalmia;

D O I：

10.1002/ajmg.a.32169

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

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. (c) 2008 Wiley-Liss, Inc.

引用

页码：500 / 504

页数：5

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