title: 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.
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.
authors.affiliation: Department of Clinical Genetics, Erasmus Medical Centre-Sophia Children's Hospital, Rotterdam, The Netherlands. y.vanbever@erasmusmc.nl
authors.forename: Yolande
authors.initials: Y
authors.lastname: van Bever
authors.forename: Liselotte
authors.initials: L
authors.lastname: van Hest
authors.forename: Roger
authors.initials: R
authors.lastname: Wolfs
authors.forename: Dick
authors.initials: D
authors.lastname: Tibboel
authors.forename: Thelma L
authors.initials: TL
authors.lastname: van den Hoonaard
authors.forename: Saskia J
authors.initials: SJ
authors.lastname: Gischler
mesh_terms: D004252:DNA Mutational Analysis; D005124:Eye Abnormalities / Q000150:complications / Q000235:genetics*; D005136:Eye Proteins / Q000235:genetics*; D005260:Female; D051858:Forkhead Transcription Factors / Q000235:genetics*; D018398:Homeodomain Proteins / Q000235:genetics*; D006801:Humans; D007223:Infant; D007409:Intestinal Atresia / Q000150:complications / Q000235:genetics*; D008831:Microcephaly / Q000150:complications / Q000235:genetics*; D009154:Mutation; D000071447:N-Myc Proto-Oncogene Protein; D009687:Nuclear Proteins / Q000235:genetics*; D015513:Oncogene Proteins / Q000235:genetics*; D000071841:PAX6 Transcription Factor; D051761:Paired Box Transcription Factors / Q000235:genetics*; D012097:Repressor Proteins / Q000235:genetics*; D014157:Transcription Factors / Q000235:genetics*; D000097577:Homeobox Protein PITX2
chemical_list: D005136:Eye Proteins; D051858:Forkhead Transcription Factors; D018398:Homeodomain Proteins; D000071447:N-Myc Proto-Oncogene Protein; D009687:Nuclear Proteins; D015513:Oncogene Proteins; D000071841:PAX6 Transcription Factor; D051761:Paired Box Transcription Factors; D012097:Repressor Proteins; D014157:Transcription Factors; D000097577:Homeobox Protein PITX2; C112743:FOXC1 protein, human; C459801:MYCN protein, human; C000605730:PAX6 protein, human