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
✍ Scribed by Yolande van Bever; Liselotte van Hest; Roger Wolfs; Dick Tibboel; Thelma L. van den Hoonaard; Saskia J. Gischler
- Publisher
- John Wiley and Sons
- Year
- 2008
- Tongue
- English
- Weight
- 135 KB
- Volume
- 146A
- Category
- Article
- ISSN
- 1552-4825
No coin nor oath required. For personal study only.
✦ Synopsis
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. © 2008 Wiley‐Liss, Inc.