Mild nasal malformations and parietal foramina caused by homozygous ALX4 mutations

American Journal of Medical Genetics, Part A

Volumn 158 A, Issue 1, 2012, Pages 236-244

  Kayserili, Hülya ^a   Altunoglu, U ^a   Ozgur, H ^a   Basaran, S ^a   Uyguner, Z O ^a  

^a ISTANBUL UNIVERSITY   (Turkey)

Author keywords

ALX genes; ALX4; Bifid nose; Craniofrontonasal dysplasia; Craniorhiny; Frontonasal dysplasia; Frontorhiny; Parietal foramina

Indexed keywords

PROTEIN ALX4; TRANSCRIPTION FACTOR; UNCLASSIFIED DRUG;

ALX4 GENE; AMINO ACID SEQUENCE; AMINO ACID SUBSTITUTION; ARTICLE; CASE REPORT; CHILD; COMPUTER ASSISTED TOMOGRAPHY; CONSANGUINITY; CONTROLLED STUDY; FINGER MALFORMATION; GENE; GENE MUTATION; GENE SEQUENCE; HOMOZYGOSITY; HUMAN; HYPERTELORISM; MALE; NIPPLE MALFORMATION; NOSE MALFORMATION; NUCLEAR MAGNETIC RESONANCE IMAGING; NUCLEOTIDE SEQUENCE; PARIETAL FORAMINA; PRESCHOOL CHILD; PRIORITY JOURNAL; SKULL MALFORMATION;

CHILD; CONSANGUINITY; DNA-BINDING PROTEINS; EAR; ENCEPHALOCELE; GENETIC ASSOCIATION STUDIES; HOMOZYGOTE; HUMANS; MAGNETIC RESONANCE IMAGING; MALE; MUTATION, MISSENSE; NOSE; PARIETAL BONE; PHENOTYPE; TRANSCRIPTION FACTORS;

COLUMELLA;

EID: 84355161396     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.34390     Document Type: Article

References (27)

1. Arnold K, Bordoli L, Kopp J, Schwede T. 2006. The SWISS-MODEL workspace: A web-based environment for protein structure homology modelling. Bioinformatics 22: 195-201.
2. Banerjee-Basu S, Sink DW, Baxevanis AD. 2001. The homeodomain resources: Sequences, structures, DNA binding sites and genomic information. Nucl Acids Res 29: 291-293.
3. Barton GJ. 1993. ALSCRIPT: A tool to format multiple sequence alignments. Protein Eng 10: 37-40.
4. Benkert P, Biasini M, Schwede T. 2011. Toward the estimation of the absolute quality of individual protein structure models. Bioinformatics 27: 343-350.
5. Chi YI. 2005. Homeodomain revisited: A lesson from disease-causing mutations. Hum Genet 116: 433-444.
6. Friedberg T, Pentazi S, Blaser S, Murphy K, Chitayat D. May 2, 2008. Fetal parietal foramina: Ultrasound and MRI findings. Abstract Book: 25th Annual Research Day, Department of Obstetrics and Gynaecology, University of Toronto. p 55, #P-D2.
7. Gollop TR. 1981. Fronto-facio-nasal dysostosis - a new autosomal recessive syndrome. Am J Med Genet 10: 409-412.
8. Grigelioniene G, Schoumans J, Neumeyer L, Ivarsson A, Eklöf O, Enkvist O, Tordai P, Fosdal I, Myhre AG, Westphal O, Nilsson NO, Elfving M, Ellis I, Anderlid BM, Fransson I, Tapia-Paez I, Nordenskjöld M, Hagenäs L, Dumanski JP. 2001. Analysis of short stature homeobox-containing gene (SHOX) and auxological phenotype in dyschondrosteosis and isolated Madelung deformity. Hum Genet 109: 551-558.
9. Guex N, Peitsch MC. 1997. SWISS-MODEL and the Swiss-PdbViewer: an environment for comparative protein modelling. Electrophoresis 18: 2714-2723.
10. Holland PW, Booth HA, Bruford EA. 2007. Classification and nomenclature of all human homeobox genes. BMC Biol 5: 47.
11. Kayserili H, Uz E, Niessen C, Vargel I, Alanay Y, Tuncbilek G, Yigit G, Uyguner O, Candan S, Okur H, Kaygin S, Balci S, Mavili E, Alikasifoglu M, Haase I, Wollnik B, Akarsu NA. 2009. ALX4 dysfunction disrupts craniofacial and epidermal development. Hum Mol Genet 18: 4357-4366.
12. Kissinger CR, Liu BS, Martin-Blanco E, Kornberg TB, Pabo CO. 1990. Crystal structure of an engrailed homeodomain-DNA complex at 2.8 A resolution: A framework for understanding homeodomain-DNA interactions. Cell 63: 579-590.
13. Lees MM, Kangesu L, Hall P, Hennekam RCM. 2007. Two siblings with an unusual nasal malformation: Further instances of craniorhiny? Am J Med Genet Part A 143A: 3290-3294.
14. Mavrogiannis LA, Antonopoulou I, Baxova A, Kutilek S, Kim CA, Sugayama SM, Salamanca A, Wall SA, Morriss-Kay GM, Wilkie AOM. 2001. Haploinsufficiency of the human homeobox gene ALX4 causes skull ossification defects. Nature Genet 27: 17-18.
15. Mavrogiannis LA, Taylor IB, Davies SJ, Ramos FJ, Olivares JL, Wilkie AOM. 2006. Enlarged parietal foramina caused by mutations in the homeobox genes ALX4 and MSX2: From genotype to phenotype. Eur J Hum Genet 14: 151-158.
16. Melo F, Feytmans E. 1998. Assessing protein structures with a non-local atomic interaction energy. J Mol Biol 277: 1141-1152.
17. Paliwal P, Singh A, Tandon R, Titiyal JS, Sharma A. 2009. A novel VSX1 mutation identified in an individual with keratoconus in India. Mol Vis 15: 2475-2479.
18. Schwede T, Kopp J, Guex N, Peitsch MC. 2003. SWISS-MODEL: An automated protein homology-modeling server. Nucleic Acids Res 31: 3381-3385.
19. Twigg SRF, Kan R, Babs C, Bochuva EG, Robertson SP, Wall SA, Morriss-Kay GM, Wilkie AOM. 2004. Mutations of ephrin-B1 (EFNB1), a marker of tissue boundary formation, cause craniofrontonasal syndrome. Proc Natl Acad Sci 101: 8652-8657.
20. Twigg SRF, Versnel SL, Nurnberg G, Lees MM, Bhat M, Hammond P, Hennekam RCM, Hoogeboom AJM, Hurst JA, Johnson D, Robinson AA, Scambler PJ, Gerrelli D, Nürnberg P, Mathijssen IM, Wilkie AO. 2009. Frontorhiny, a distinctive presentation of frontonasal dysplasia caused by recessive mutations in the ALX3 homeobox gene. Am J Hum Genet 84: 698-705.
21. Uz E, Alanay Y, Aktas D, Vargel I, Gucer S, Tuncbilek G, von Eggeling F, Yilmaz E, Deren O, Posorski N, Ozdag H, Liehr T, Balci S, Alikasifoglu M, Wollnik B, Akarsu NA. 2010. Disruption of ALX1 causes extreme microphthalmia and severe facial clefting: Expanding the spectrum of autosomal-recessive ALX-related frontonasal dysplasia. Am J Hum Genet 86: 789-796.
22. Valente M, Valente KD, Sugayama SS, Kim CA. 2004. Malformation of cortical and vascular development in one family with parietal foramina determined by an ALX4 homeobox gene mutation. AJNR Am J Neuroradiol 25: 1836-1839.
23. van Gunsteren WF, Billeter SR, Eising AA, Hünenberger PH, Krüger P, Mark AE, Scott WRP, Tironi IG. 1996. Biomolecular Simulation: The GROMOS96 Manual and User Guide, Vdf Hochshulverlag AG an der ETH Zürich, Zürich, Switzerland, pp. 1-1042.
24. Voronina VA, Kozhemyakina EA, O'Kernick CM, Kahn ND, Wenger SL, Linberg JV, Schneider AS, Mathers PH. 2004. Mutations in the human RAX homeobox gene in a patient with anophthalmia and sclerocornea. Hum Mol Genet 13: 315-322.
25. Wang Z, Moult J. 2001. SNPs, protein structure and disease. Hum Mutat 17: 263-270.
26. Wilkie AOM, Tang Z, Ekanko N, Walsh S, Twigg SRF, Hurst JA, Wall SA, Chrzanowska KH, Maxson RE Jr. 2000. Functional haploinsufficiency of the human homeobox gene MSX2 causes defects in skull ossification. Nature Genet 24: 387-390.
27. Wuyts W, Cleiren E, Homfray T, Rasore-Quartino A, Vanhoenacker F, van Hul W. 2000. The ALX4 homeobox gene is mutated in patients with ossification defects of the skull (foramina parietalia permagna, OMIM 168500). J Med Genet 37: 916-920.