Bilaterally cleft lip and bilateral thumb polydactyly with triphalangeal component in a patient with two De novo deletions of HSA 4q32 and 4q34 involving PDGFC, GRIA2, and FBXO8 genes

American Journal of Medical Genetics, Part A

Volumn 161, Issue 10, 2013, Pages 2656-2662

  Calcia, Alessandro ^a   Gai, Giorgia ^a,b   Di Gregorio, Eleonora ^a,b   Talarico, Flavia ^b   Naretto, Valeria G ^b   Migone, Nicola ^a,b   Pepe, Ernesto ^c   Grosso, Enrico ^b   Brusco, Alfredo ^a,b  

^a UNIVERSITY OF TURIN   (Italy)

^b SCdU Ematologia   (Italy)

^c Dipartimento Chirurgia Generale e Specialistiche   (Italy)

Author keywords

Cleft lip; FBXO8; GRIA2; PDGFC; Polydactyly; Triphalangeal thumb

Indexed keywords

PLATELET DERIVED GROWTH FACTOR C;

ARTICLE; CASE REPORT; CHROMOSOME DELETION; CHROMOSOME DELETION 4Q32; CHROMOSOME DELETION 4Q34; CLEFT LIP; COMPARATIVE GENOMIC HYBRIDIZATION; FBXO8 GENE; GENE; GENE DELETION; GENETIC ASSOCIATION; GLRB GENE; GRIA2 GENE; HUMAN; MALE; NEWBORN; NUCLEOTIDE SEQUENCE; PATENT FORAMEN OVALE; PDGFC2 GENE; POLYDACTYLY; PRIORITY JOURNAL;

MUS;

CLEFT LIP; FBXO8; GRIA2; PDGFC; POLYDACTYLY; TRIPHALANGEAL THUMB;

ABNORMALITIES, MULTIPLE; ANIMALS; CHROMOSOME DELETION; CHROMOSOMES, HUMAN, PAIR 4; CLEFT LIP; COMPARATIVE GENOMIC HYBRIDIZATION; HAND DEFORMITIES, CONGENITAL; HUMANS; INFANT, NEWBORN; LYMPHOKINES; MALE; MICE; PEDIGREE; PHENOTYPE; PLATELET-DERIVED GROWTH FACTOR; RECEPTORS, AMPA; SYNDROME; THUMB;

EID: 84884974012     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.36146     Document Type: Article

References (41)

1. Alter BP. 1978. Thumbs and anemia. Pediatrics 62:613-614.
2. Bateman MS, Mehta SG, Willatt L, Selkirk E, Bedwell C, Zwolinski S, Sparnon L, Simonic I, Abbott K, Barber JC. 2009. A de novo 4q34 interstitial deletion of at least 9.3Mb with no discernible phenotypic effect. Am J Med Genet Part A 152A:1764-1769.
3. Bernier FP, Caluseriu O, Ng S, Schwartzentruber J, Buckingham KJ, Innes AM, Jabs EW, Innis JW, Schuette JL, Gorski JL, Byers PH, Andelfinger G, Siu V, Lauzon J, Fernandez BA, McMillin M, Scott RH, Racher H, Majewski J, Nickerson DA, Shendure J, Bamshad MJ, Parboosingh JS. 2012. Haploinsufficiency of SF3B4, a component of the pre-mRNA spliceosomal complex, causes Nager syndrome. Am J Hum Genet 90:925-933.
4. Cardozo T, Pagano M. 2004. The SCF ubiquitin ligase: Insights into a molecular machine. Nat Rev Mol Cell Biol 5:739-751.
5. Carnevale A, Hernández M, del Castillo V, Torres P. 1980. A new syndrome of triphalangeal thumbs and brachy-ectrodactyly. Clin Genet 18:244-252.
6. Christie LA, Russell TA, Xu J, Wood L, Shepherd GM, Contractor A. 2010. AMPA receptor desensitization mutation results in severe developmental phenotypes and early postnatal lethality. Proc Natl Acad Sci USA 107:9412-9417.
7. Diamond LK, Allen DW, Magill FB. 1961. Congenital (erythroid) hypoplastic anemia: A 25 year study. Am J Dis Child 102:403-415.
8. Ding H, Wu X, Bostrom H, Kim I, Wong N, Tsoi B, O'Rourke M, Koh GY, Soriano P, Betsholtz C, Hart TC, Marazita ML, Field LL, Tam PP, Nagy A. 2004. A specific requirement for PDGF-C in palate formation and PDGFR-alpha signaling. Nat Genet 36:1111-1116.
9. Ecke H. 1962. Beitrag zu den Doppelmissbildungen im Bereich der Finger. Bruns Beitr Klin Chir 205:463-468.
10. Elliott AM, Evans JA. 2006. Genotype-phenotype correlations in mapped split hand foot malformation (SHFM) patients. Am J Med Genet Part A 140A:1419-1427.
11. Fabretto A, Santa Rocca M, Perrone MD, Skabar A, Pecile V, Gasparini P. 2012. De novo 6.9Mb interstitial deletion on chromosome 4q31.1-q32.1 in a girl with severe speech delay and dysmorphic features. Am J Med Genet Part A 158A:882-887.
12. FitzPatrick DR, Raine PA, Boorman JG. 1994. Facial clefts in the west of Scotland in the period 1980-1984: Epidemiology and genetic diagnoses. J Med Genet 31:126-129.
13. Gecz J, Barnett S, Liu J, Hollway G, Donnelly A, Eyre H, Eshkevari HS, Baltazar R, Grunn A, Nagaraja R, Gilliam C, Peltonen L, Sutherland GR, Baron M, Mulley JC. 1999. Characterization of the human glutamate receptor subunit 3 gene (GRIA3), a candidate for bipolar disorder and nonspecific X-linked mental retardation. Genomics 62:356-368.
14. Hollmann M, Heinemann S. 1994. Cloned glutamate receptors. Annu Rev Neurosci 17:31-108.
15. Jones MC. 1988. Etiology of facial clefts: Prospective evaluation of 428 patients. Cleft Palate J 25:16-20.
16. Klopocki E, Ott CE, Benatar N, Ullmann R, Mundlos S, Lehmann K. 2008. A microduplication of the long range SHH limb regulator (ZRS) is associated with triphalangeal thumb-polysyndactyly syndrome. J Med Genet 45:370-375.
17. Marazita ML. 2012. The evolution of human genetic studies of cleft lip and cleft palate. Annu Rev Genomics Hum Genet 13:263-283.
18. Marazita ML, Field LL, Cooper ME, Tobias R, Maher BS, Peanchitlertkajorn S, Liu YE. 2002. Nonsyndromic cleft lip with or without cleft palate in China: Assessment of candidate regions. Cleft Palate Craniofac J 39:149-156.
19. Marazita ML, Lidral AC, Murray JC, Field LL, Maher BS, Goldstein McHenry T, Cooper ME, Govil M, Daack-Hirsch S, Riley B, Jugessur A, Felix T, Morene L, Mansilla MA, Vieira AR, Doheny K, Pugh E, Valencia-Ramirez C, Arcos-Burgos M. 2009. Genome scan, fine-mapping, and candidate gene analysis of non-syndromic cleft lip with or without cleft palate reveals phenotype-specific differences in linkage and association results. Hum Hered 68:151-170.
20. Merlob P, Grunebaum M, Reisner SH. 1985. Familial opposable triphalangeal thumbs associated with duplication of the big toes. J Med Genet 22:78-80.
21. Moeschler J, Clarren SK. 1982. Familial occurrence of hemifacial microsomia with radial limb defects. Am J Med Genet 12:371-375.
22. Murray JC. 2002. Gene/environment causes of cleft lip and/or palate. Clin Genet 61:248-256.
23. Passafaro M, Nakagawa T, Sala C, Sheng M. 2003. Induction of dendritic spines by an extracellular domain of AMPA receptor subunit GluR2. Nature 424:677-681.
24. Pierce ER. 1974. I-Triphalangeal thumbs in three sibs. Birth Defects Orig Artic Ser 10:218-221.
25. Radhakrishna U, Multani AS, Solanki JV, Shah VC, Chinoy NJ. 1993. Polydactyly: A study of a five generation Indian family. J Med Genet 30:296-299.
26. Ramanathan S, Woodroffe A, Flodman PL, Mays LZ, Hanouni M, Modahl CB, Steinberg-Epstein R, Bocian ME, Spence MA, Smith M. 2004. A case of autism with an interstitial deletion on 4q leading to hemizygosity for genes encoding for glutamine and glycine neurotransmitter receptor sub-units (AMPA 2, GLRA3, GLRB) and neuropeptide receptors NPY1R, NPY5R. BMC Med Genet 5:10.
27. Reigstad LJ, Sande HM, Fluge O, Bruland O, Muga A, Varhaug JE, Martinez A, Lillehaug JR. 2003. Platelet-derived growth factor (PDGF)-C, a PDGF family member with a vascular endothelial growth factor-like structure. J Biol Chem 278:17114-17120.
28. Richieri-Costa A, Gollop TR, Colletto GM. 1983. Brief clinical report: Syndrome of acrofacial dysostosis, cleft lip/palate, and triphalangeal thumb in a Brazilian family. Am J Med Genet 14:225-229.
29. Rossi MR, DiMaio MS, Xiang B, Lu K, Kaymakcalan H, Seashore M, Mahoney MJ, Li P. 2009. Clinical and genomic characterization of distal duplications and deletions of chromosome 4q: Study of two cases and review of the literature. Am J Med Genet Part A 149A:2788-2794.
30. Sidow A, Bulotsky MS, Kerrebrock AW, Birren BW, Altshuler D, Jaenisch R, Johnson KR, Lander ES. 1999. A novel member of the F-box/WD40 gene family, encoding dactylin, is disrupted in the mouse dactylaplasia mutant. Nat Genet 23:104-107.
31. Silengo MC, Biagioli M, Bell GL, Bona G, Franceschini P. 1987. Triphalangeal thumb and brachy-ectrodactyly syndrome. Confirmation of autosomal dominant inheritance. Clin Genet 31:13-18.
32. Sun M, Ma F, Zeng X, Liu Q, Zhao X-L, Wu F-X, Wu G-P, Zhang Z-F, Gu B, Zhao Y-F, Tian S-H, Lin B, Kong X-Y, Zhang X-L, Yang W, Lo WH-Y, Zhang X. 2008. Triphalangeal thumb-polysyndactyly syndrome and syndactyly type IV are caused by genomic duplications involving the long range, limb-specific SHH enhancer. J Med Genet 45:589-595.
33. Swanson AB, Brown KS. 1962. Hereditary triphalangeal thumb. J Hered 53:259-265.
34. Temtamy SA, McKusick VA. 1978. The genetics of hand malformations. Birth Defects Orig Artic Ser 14:1-619.
35. Tsukurov O, Boehmer A, Flynn J, Nicolai JP, Hamel BC, Traill S, Zaleske D, Mankin HJ, Yeon H, Ho C, et al. 1994. A complex bilateral polysyndactyly disease locus maps to chromosome 7q36. Nat Genet 6:282-286.
36. Tzschach A, Menzel C, Erdogan F, Istifli ES, Rieger M, Ovens-Raeder A, Macke A, Ropers HH, Ullmann R, Kalscheuer V. 2010. Characterization of an interstitial 4q32 deletion in a patient with mental retardation and a complex chromosome rearrangement. Am J Med Genet Part A 152A:1008-1012.
37. Warm A, Di Pietro C, D'Agrosa F, Cambiè M, Gaboardi F. 1988. Non-opposable triphalangeal thumb in an Italian family. J Med Genet 25:337-339.
38. Wehby GL, Cassell CH. 2010. The impact of orofacial clefts on quality of life and healthcare use and costs. Oral Dis 16:3-10.
39. Wood VE. 1978. Polydactyly and the triphalangeal thumb. J Hand Surg Am 3:436-444.
40. Wu D, Wang M, Wang X, Yin N, Song T, Li H, Zhang F, Zhang Y, Ye Z, Yu J, Wang DM, Zhao Z. 2012. Maternal transmission effect of a PDGF-C SNP on nonsyndromic cleft lip with or without palate from a Chinese population. PLoS ONE 7:e46477.
41. Zenteno JC, Aguinaga M, Chávez V, Sastré N, Rivera MR, Kofman-Alfaro S. 1996. Triphalangeal thumb and brachyectrodactyly syndrome: An uncommon entity with evidence of geographic distribution. Clin Genet 50:152-155.