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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
Author(s) -
van Bever Yolande,
van Hest Liselotte,
Wolfs Roger,
Tibboel Dick,
van den Hoonaard Thelma L.,
Gischler Saskia J.
Publication year - 2008
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.32169
Subject(s) - pax6 , microcephaly , microphthalmia , biology , genetics , mutation , pitx2 , missense mutation , multiplex ligation dependent probe amplification , gene , transcription factor , exon , homeobox
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.