Fine-grained facial phenotype-genotype analysis in Wolf-Hirschhorn syndrome

European Journal of Human Genetics

Volumn 20, Issue 1, 2012, Pages 33-40

  Hammond, Peter ^a   Hannes, Femke ^b   Suttie, Michael ^a   Devriendt, Koen ^b   Vermeesch, Joris Robert ^b   Faravelli, Francesca ^c   Forzano, Francesca ^c   Parekh, Susan ^d   Williams, Steve ^e   McMullan, Dominic ^f   South, Sarah T ^g   Carey, John C ^g   Quarrell, Oliver ^e  

^a UNIVERSITY COLLEGE LONDON   (United Kingdom)

^b UNIVERSITY OF LEUVEN   (Belgium)

^c GALLIERA HOSPITAL   (Italy)

^d UNIVERSITY COLLEGE LONDON   (United Kingdom)

^e SHEFFIELD CHILDREN S HOSPITAL   (United Kingdom)

^f BIRMINGHAM WOMEN S HOSPITAL   (United Kingdom)

^g UNIVERSITY OF UTAH SCHOOL OF MEDICINE   (United States)

Author keywords

3D shape analysis; facial dysmorphism; Wolf Hirschhorn syndrome

Indexed keywords

ARTICLE; CASE REPORT; CHILD; DEVELOPMENTAL DISORDER; FACE DYSMORPHIA; FACIES; FEEDING BEHAVIOR; GASTROSTOMY; GENE DELETION; GENETIC ANALYSIS; HEART ATRIUM SEPTUM DEFECT; HUMAN; INFANT; INTRAUTERINE GROWTH RETARDATION; MALE; PATTERN RECOGNITION; PRESCHOOL CHILD; PRIORITY JOURNAL; TENDON REFLEX; WEIGHT GAIN; WOLF HIRSCHHORN SYNDROME;

ADOLESCENT; ADULT; CASE-CONTROL STUDIES; CHILD; CHILD, PRESCHOOL; CHROMOSOME DELETION; CHROMOSOMES, HUMAN, PAIR 4; FACIAL ASYMMETRY; FEMALE; GENETIC ASSOCIATION STUDIES; HUMANS; HYPERTELORISM; IMAGE PROCESSING, COMPUTER-ASSISTED; INFANT; LINEAR MODELS; MALE; PATTERN RECOGNITION, AUTOMATED; PHENOTYPE; PRINCIPAL COMPONENT ANALYSIS; RECEPTOR, FIBROBLAST GROWTH FACTOR, TYPE 5; TRANSLOCATION, GENETIC; WOLF-HIRSCHHORN SYNDROME; YOUNG ADULT;

EID: 83255176915     PISSN: 10184813     EISSN: 14765438     Source Type: Journal    
DOI: 10.1038/ejhg.2011.135     Document Type: Article

References (41)

1. Cooper H, Hirschhorn K: Apparent deletion of short arms of one chromosome (4 or 5) in a child with defects of midline fusion. Mamm Chrom Nwsl 1961; 4: 14.
2. Wolf U, Reinwein H, Porsch R, Schröter R, Baitsch H: Deficiency on the short arms of a chromosome no. 4. Humangenetik 1965; 1: 397-413.
3. Hirschhorn K, Cooper HL, Firschein IL: Deletion of short arms of chromosome 4-5 in a child with defects of midline fusion. Humangenetik 1965; 1: 479-482.
4. Battaglia A, Carey JC, South ST, Wright TJ: Wolf-Hirschhorn Syndrome; in: Pagon RA, Bird TD, Dolan CR, Stephens K, (eds). GeneReviews 2010 [Internet]. Seattle, WA: University of Washington, 1993-2002 (updated 17 June 2010).
5. Lurie IW, Lazjuk GI, Ussova YI, Presman EB, Gurevich DB: The Wolf-Hirschhorn syndrome. I. Genetics. Clin Genet 1980; 17: 375-384. (Pubitemid 10090126)
6. Shannon NL, Maltby EL, Rigby AS, Quarrell OWJ: An epidemiological study of Wolf-Hirschhorn syndrome: life expectancy and cause of mortality. J Med Genet 2001; 38: 674-679. (Pubitemid 32946788)
7. South ST, Whitby H, Battaglia A, Carey JC, Brothman AR: Comprehensive analysis of Wolf-Hirschhorn syndrome using array CGH indicates a high prevalence of translocations. Eur J Hum Genet 2008; 16: 45-52. (Pubitemid 350269238)
8. Giglio S, Calvari V, Gregato G et al: Heterozygous submicroscopic inversions involving olfactory receptor-gene clusters mediate the recurrent t(4;8)(p16;p23) translocation. Am J Hum Genet 2002; 71: 276-285. (Pubitemid 34800244)
9. Zollino M, Lecce R, Selicorni A et al: A double cryptic chromosome imbalance is an important factor to explain phenotypic variability in Wolf-Hirschhorn syndrome. Eur J Hum Genet 2004; 12: 797-804. (Pubitemid 39406063)
10. Wieczorek D, Krause M, Majewski F et al: Unexpected high frequency of de novo unbalanced translocations in patients with Wolf-Hirschhorn syndrome (WHS). J Med Genet 2000; 37: 798-804.
11. Tönnies H, Stumm S, Neumann L et al: Two further cases of WHS with unbalanced de novo translocation t(4;8) characterised by CGH and FISH. JMedGenet 2001; 38: e21.
12. Battaglia A, Carey JC, Wright TJ: Wolf-Hirschhorn (4p̈) syndrome. Adv Pediatr 2001; 48: 75-113.
13. Bergemann AD, Cole F, Hirschhorn K: The etiology of Wolf-Hirschhorn syndrome. Trends Genet 2005; 21: 188-195. (Pubitemid 40269858)
14. Wieczorek D, Krause M, Majewski F et al: Effect of the size of the deletion and clinical manifestation in Wolf-Hirschhorn syndrome: analysis of 13 patients with a de novo deletion. Eur J Hum Genet 2000; 8: 519-526. (Pubitemid 30447125)
15. Zollino M, Di Stefano C, Zampino G et al: Genotype-phenotype correlations and clinical diagnostic criteria in Wolf-Hirschhorn syndrome. Am J Med Genet 2000; 94: 254-261.
16. Clemens M, Martsolf JT, Rogers JG, Mowery-Rushton P, Surti U, McPherson E: Pitt-Rogers-Danks syndrome: the result of a 4p microdeletion. Am J Med Genet 1996; 66: 95-100.
17. Lindeman-Kusse MC, Van Haeringen A, Hoorweg-Nijman JJ, Brunner HG: Cytogenetic abnormalities in two new patients with Pitt-Rogers-Danks phenotype. Am J Med Genet 1996; 66: 104-112.
18. Rauch A, Schellmoser S, Kraus C et al: First known microdeletion within the Wolf-Hirschhorn syndrome critical region refines genotype-phenotype correlation. Am J Med Genet 2001; 99: 338-342.
19. Zollino M, Lecce R, Fischetto R et al: Mapping the Wolf-Hirschhorn syndrome phenotype outside the currently accepted WHS critical region and defining a new critical region WHSCR-2. Am J Hum Genet 2003; 72: 590-597. (Pubitemid 36255958)
20. Van Buggenhout G, Melotte C, Dutta B et al: Mild Wolf-Hirschhorn syndrome: microarray CGH analysis of atypical 4p16.3 deletions enables refinement of the genotype-phenotype map. J Med Genet 2004; 41: 691-698. (Pubitemid 39208610)
21. Maas NM, Van Buggenhout G, Hannes F et al: Genotype-phenotype correlation in 21 patients with Wolf-Hirschhorn syndrome using high resolution array comparative genome hybridisation (CGH). J Med Genet 2008; 45: 71-80. (Pubitemid 351252869)
22. Engbers H, van der Smagt JJ, van't Slot R, Vermeesch JR, Hochstenbach R, Poot M: Wolf-Hirschhorn syndrome facial dysmorphic features in a patient with a terminal 4p16.3 deletion telomeric to the WHSCR and WHSCR 2 regions. Eur J Hum Genet 2009; 17: 129-132.
23. Catela C, Bilbao-Cortes D, Slonimsky E, Kratsios P, Rosenthal N, Te Welscher P: Multiple congenital malformations of Wolf-Hirschhorn syndrome are recapitulated in Fgfrl1 null mice. Dis Model Mech 2009; 2: 283-294.
24. Nieminen P, Kotilainen J, Aalto Y, Knuutila S, Pirinen S, Thesleff I: MSX1 gene is deleted in Wolf-Hirschhorn syndrome patients with oligodontia. J Dent Res 2003; 82: 1013-1017. (Pubitemid 41713822)
25. Hutton TJ: Dense surface models of the human face. PhD thesis, University College London, London, 2004.
26. Hammond P, Hutton TJ, Allanson J et al: Discriminating power of localised 3D facial morphology. Am J Hum Genet 2005; 77: 999-1010. (Pubitemid 41698520)
27. Bhuiyan Z, Klein M, Hammond P et al: Genotype-phenotype correlations of 39 patients with Cornelia de Lange syndrome: the Dutch experience.JMedGenet 2006; 43: 568-575. (Pubitemid 44048763)
28. Cox-Brinkman J, Vedder A, Hollak C et al: 3D face shape in Fabry disease. Eur J Hum Gen 2007; 15: 535-542.
29. Hammond P, Hutton TJ, Allanson JE et al: 3D analysis of facial morphology. Am J Med Genet 2004; A126: 339-348. (Pubitemid 38541802)
30. Hammond P: The use of 3D face shape modelling in dysmorphology. Arch Dis Child 2007; 92: 1120-1126. (Pubitemid 350221460)
31. Hammond P, Forster-Gibson C, Chudley AE et al: Face-brain asymmetry in autism spectrum disorders. Mol Psychol 2008; 13: 614-623. (Pubitemid 351704940)
32. Hennessy RJ, McLearie S, Kinsella A, Waddington JL: Facial surface analysis by 3D laser scanning and geometric morphometrics in relation to sexual dimorphism in cerebral-craniofacial morphogenesis and cognitive function. J Anat 2005; 207: 283-295. (Pubitemid 41301003)
33. Tassabehji M, Hammond P, Karmiloff-Smith A et al: GTF2IRD1 in craniofacial development of humans and mice. Science 2006; 310: 1184-1187.
34. Tobin JL, DiFranco M, Eichers E et al: Defects of Shh transduction and neural crest cell migration underlie craniofacial dysmorphology in Bardet-Biedl syndrome. Proc Natl Acad Sci 2008; 105: 6714-6719. (Pubitemid 351754572)
35. Aldridge K, Boyadjiev SA, Capone GT, DeLeon VB, Richtsmeier JT: Precision and error of three-dimensional phenotypic measures acquired from 3dMD photogrammetric images. Am J Med Genet 2005; A138: 247-253. (Pubitemid 41384241)
36. Faravelli F, Murdolo M, Marangi G, Bricarelli FD, Di Rocco M, Zollino M: Mother to son amplification of a small subtelomeric deletion: a new mechanism of familial recurrence in microdeletion syndromes. Am J Med Genet 2007;143A: 1169-1173. (Pubitemid 46870071)
37. South ST, Bleyl SB, Carey JC: Two unique patients with novel microdeletions in 4p16.3 that exclude the WHS critical regions: implications for critical region designation. Am J Med Genet 2007; 143A: 2137-2142.
38. Wuensch KL, Jenkins KW, Poteat G: Misanthropy, idealism and attitudes towards animals. Anthrozoos 2002; 15: 139-149. (Pubitemid 35342390)
39. Gwilliam JR, Cunningham SJ, Hutton TJ: Reproducibility of soft tissue landmarks on three-dimensional facial scans. Eur J Ortho 2006; 28: 408-415. (Pubitemid 44545450)
40. Hutton TJ, Buxton BF, Hammond P, Potts HWW: Estimating average growth trajectories in shape-space using kernel smoothing. IEEE Trans Med Imag 2003; 22: 747-753.
41. Trueb B, Taeschler S: Expression of FGFRL1, a novel fibroblast growth factor receptor, during embryonic development. Int J Mol Med 2006; 17: 617-620.