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

American Journal of Medical Genetics, Part A

Volumn 146, Issue 4, 2008, Pages 500-504

  Van Bever, Yolande ^a,b   Van Hest, Liselotte ^a   Wolfs, Roger ^a   Tibboel, Dick ^a   Van Den Hoonaard, Thelma L ^a   Gischler, Saskia J ^a  

^a SOPHIA CHILDREN S HOSPITAL   (Netherlands)

^b ERASMUS MEDICAL CENTER   (Netherlands)

Author keywords

Anterior eye chamber anomalies; Apple peel intestinal atresia; Axenfeld Rieger; FOXC1; Microcephaly; Microphthalmia; MYCN; PAX6; Peters anomaly; PITX2

Indexed keywords

ANTERIOR EYE CHAMBER; ANTERIOR EYE CHAMBER DISEASE; APPLE PEEL INTESTINAL ATRESIA; ARTICLE; AUTOSOMAL RECESSIVE INHERITANCE; CASE REPORT; CORNEA DISEASE; FEMALE; FOXC1 GENE; GENE; GENE DELETION; GENE MUTATION; GERM LINE; HUMAN; INTESTINE ATRESIA; MICROCEPHALY; MICRODELETION; MICROPHTHALMIA; MOSAICISM; MYCN GENE; NEWBORN; PAX6 GENE; PHENOTYPE; PITX2 GENE; PRIORITY JOURNAL; RECURRENCE RISK; VISUAL IMPAIRMENT;

DNA MUTATIONAL ANALYSIS; EYE ABNORMALITIES; EYE PROTEINS; FEMALE; FORKHEAD TRANSCRIPTION FACTORS; HOMEODOMAIN PROTEINS; HUMANS; INFANT; INTESTINAL ATRESIA; MICROCEPHALY; MUTATION; NUCLEAR PROTEINS; ONCOGENE PROTEINS; PAIRED BOX TRANSCRIPTION FACTORS; REPRESSOR PROTEINS; TRANSCRIPTION FACTORS;

MALUS X DOMESTICA;

EID: 38849190104     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.32169     Document Type: Article

References (22)

1. Al-Awadi SA, Farag TI, Naguib K, Cuschieri A, Issa M. 1981. Familial jejunal atresia with "apple-peel" variant. J R Soc Med 74:499-501.
2. Bellini C, Mazzella M, Arioni C, Fondelli MP, Serra G. 2002. "Apple-Peel" intestinal atresia, ocular anomalies, and microcephaly syndrome: Brain magnetic resonance imaging study. Am J Med Genet 110:176-178.
3. Blixt A, Landgren H, Johansson BR, Carlsson P. 2007. Foxe3 is required for morphogenesis and differentiation of the anterior segment of the eye and is sensitive to Pax6 gene dosage. Dev Biol 302:218-229.
4. Bower KL, Dennis NR, Wellesley D, Williams CPR, Hodgkins P, Tyreman C, Browne C. 2003. New case of Apple-Peel intestinal atresia and ocular anomalies with mosaic variegated aneuploidy. Am J Med Genet Part A 117A:200-201.
5. Cook JA, Bennet C. 1995. A child with oligo-syndactyly and äpple peel bowel atresia. Clin Dysmorphol 4:79-81.
6. De Moerlooze L, Spencer-Dene B, Revest J, Hajihosseini M, Rosewell I, Dickson C. 2000. An important role for the IIIb isoform of fibroblast growth factor receptor 2 (FGFR2) in mesenchymal-epithelial signalling during mouse organogenesis. Development 127:483-492.
7. Fairbanks TJ, Kanard RC, Del Moral PM, Sala FG, De Langhe SP, Lopez CA, Veltmaat JM, Warburton D, Anderson KD, Bellusci S, Burns RC. 2005. Colonic atresia without mesenteric vascular occlusion. The role of the fibroblast growth factor 10 signaling pathway. J Pediatr Surg 40:390-396.
8. Farag TI, Teebi AS. Apple peel syndrome in sibs. J Med Genet 1989. 26:67-68.
9. Farag TI, al-Awadi SA, el-Badramany MH, Usha R, el-Ghanem M. 1993. Second family with "apple peel"syndrome affecting four siblings: Autosomal recessive inheritance confirmed. Am J Med Genet 47:119-121.
10. Festen S, Brevoord JC, Goldhoorn GA, Festen C, Hazebroek FW, van Heurn LW, de Langen ZJ, van der Zee DC, Aronson DC. 2002. Excellent long-term outcome for survivors of apple peel atresia. J Pediatr Surg 37:61-65.
11. Hanson I, Churchill A, Love J, Axton R, Moore T, Clarke M, Meire F, van Heyningen V. 1999. Missense mutations in the most ancient residues of the PAX 6 paired domain underlie a spectrum of human congenital eye malformations. Hum Mol Genet 8:165-172.
12. Lines MA, Kozlowski K, Walter MA. 2002. Molecular genetics of Axenfeld-Rieger malformations. Hum Mol Genet 11:1177-1184.
13. Seashore JH, Collins FS, Markowitz RI, Seashore MR. 1987. Familial apple peel jejunal atresia: Surgical, genetic, and radiographic aspects. Pediatrics 80:540-544.
14. Sekine K, Ohuchi H, Fujiwara M, Yamasaki M, Yoshizawa T, Sato T, Yagishita N, Matsui D, Koga Y, Itoh N, Kato S. 1999. Fgf10 is essential for limb and lung formation. Nat Genet 21:138-141.
15. Semina EV, Reiter R, Leysens NJ, Alward WL, Small KW, Datson NA, Siegel-Bartelt J, Bierke-Nelson D, Bitoun P, Zabel BU, Carey JC, Murray JC. 1996. Cloning and characterization of a novel bicoid-related homeobox transcription factor gene, RIEG, involved in Rieger syndrome. Nat Genet 14:392-399.
16. Semina EV, Brownell I, Mintz-Hittner H, Murray JC, Jamrich M. 2001. Mutation in the human forkhead transcription factor FOXE3 associated with anterior segment ocular dysgenesis and cataracts. Hum Mol Genet 10:231-236.
17. Shanske AL, Gurland JE, Mbekeani JN, Bello JA, Campbell D, Kleinhaus S. 2002. Possible new syndrome of microcephaly with cortical migration defects, Peters anomaly and multiple intestinal atresias: A multiple vascular disruption syndrome. Clin Dysmorphol 11:67-69.
18. Slee J, Goltblatt J. 1996. Further evidence for a syndrome of "apple peel" intestinal atresia, ocular anomalies and microcephaly. Clin Genet 50:260-262.
19. Stromme P, Andersen W. 1997. Developmental aspects in apple peel intestinal atresia - Ocular anomalies - Microcephaly syndrome. Clin Genet 52:133.
20. Stromme P, Dahl E, Flage T, Stee-Johansen H. 1993. Apple peel intestinal atresia in siblings with ocular anomalies and microcephaly. Clin Genet 44:208-210.
21. van Bokhoven H, Celli J, van Reeuwijk J, Rinne T, Glaudemans B, van Beusekom E, Rieu P, Newbury-Ecob RA, Chiang C, Brunner HG. 2005. MYCN haploinsufficiency is associated with reduced brain size and intestinal atresias in Feingold syndrome. Nat Genet 37:465-467.
22. Waters FM, Lloyd IC, Clayton-Smith J. 2000. Apple peel atresia in association with bilateral colobomatous malformation of the optic nerve heads, dysmorphic features, and learning disability - a new syndrome? Ophthalm Genet 21:117-121.