Mutations in SH3PXD2B cause Borrone dermato-cardio-skeletal syndrome

European Journal of Human Genetics

Volumn 22, Issue 6, 2014, Pages 741-747

  Wilson, Gabrielle R ^a,b   Sunley, Jasmine ^c   Smith, Katherine R ^b,c   Pope, Kate ^a   Bromhead, Catherine J ^c   Fitzpatrick, Elizabeth ^a   Di Rocco, Maja ^d   Van Steensel, Maurice ^e   Coman, David J ^f   Leventer, Richard J ^a,b   Delatycki, Martin B ^a,b,g   Amor, David J ^a,b   Bahlo, Melanie ^b,c   Lockhart, Paul J ^a,b  

^a ROYAL CHILDREN'S HOSPITAL   (Australia)

^b UNIVERSITY OF MELBOURNE   (Australia)

^c WALTER AND ELIZA HALL INSTITUTE OF MEDICAL RESEARCH   (Australia)

^d G GASLINI INSTITUTE   (Italy)

^e MAASTRICHT UNIVERSITY MEDICAL CENTER   (Netherlands)

^f ROYAL CHILDREN'S HOSPITAL   (Australia)

^g AUSTIN HEALTH   (Australia)

Author keywords

adaptor protein; clinical genetics; musculoskeletal abnormality; linkage; molecular genetics; podosome

Indexed keywords

PROTEIN SH3; SIGNAL TRANSDUCING ADAPTOR PROTEIN; TKS4 PROTEIN, HUMAN;

ADOLESCENT; ADULT; ARTHROPATHY; ARTICLE; BONE DYSPLASIA; BORRONE DERMATO CARDIO SKELETAL SYNDROME; BRACHYDACTYLY; CARDIOVASCULAR DISEASE; CHILD; CHROMOSOMAL LOCALIZATION; CHROMOSOME 5Q; CLINICAL FEATURE; CLUBFOOT; COARSE FACE; EYE MALFORMATION; FACE MALFORMATION; FEMALE; FIBROBLAST; GENE; GENE IDENTIFICATION; GENE MUTATION; GENETIC LINKAGE; GENETIC VARIABILITY; GINGIVA HYPERPLASIA; GLAUCOMA; HOMOZYGOSITY; HOMOZYGOTE; HUMAN; KYPHOSCOLIOSIS; LINKAGE ANALYSIS; LOSS OF FUNCTION MUTATION; MALE; MUSCULOSKELETAL DISEASE; NEWBORN; OPEN READING FRAME; OSTEOPENIA; OVERLAPPING GENE; PRESCHOOL CHILD; PRIORITY JOURNAL; SCHOOL CHILD; SEQUENCE ANALYSIS; SH3PXD2B GENE; SKIN DISEASE; TOOTH ERUPTION; VALGUS KNEE; WESTERN BLOTTING; YOUNG ADULT; CASE REPORT; CONGENITAL SKIN DISEASE; CONSANGUINITY; CRANIOFACIAL MALFORMATION; GENETICS; LIMB MALFORMATION; MITRAL VALVE PROLAPSE; MULTIPLE MALFORMATION SYNDROME; MUTATION; PATHOLOGY; PEDIGREE; SYNDROME;

ABNORMALITIES, MULTIPLE; ADAPTOR PROTEINS, SIGNAL TRANSDUCING; CONSANGUINITY; CRANIOFACIAL ABNORMALITIES; FEMALE; HUMANS; LIMB DEFORMITIES, CONGENITAL; MALE; MITRAL VALVE PROLAPSE; MUTATION; PEDIGREE; SKIN ABNORMALITIES; SYNDROME;

EID: 84901050506     PISSN: 10184813     EISSN: 14765438     Source Type: Journal    
DOI: 10.1038/ejhg.2013.229     Document Type: Article

References (25)

1. Borrone C, Di Rocco M, Crovato F, Camera G, Gambini C: New multisystemic disorder involving heart valves, skin, bones, and joints in two brothers. Am J Med Genet 1993; 46: 228-234.
2. van Steensel MA, Ceulen RP, Delhaas T, de Die-Smulders C: Two Dutch brothers with Borrone dermato-cardio-skeletal syndrome. Am J Med Genet A 2007; 143A: 1223-1226.
3. Bahlo M, Bromhead CJ: Generating linkage mapping files from Affymetrix SNP chip data. Bioinformatics 2009; 25: 1961-1962.
4. Abecasis GR, Cherny SS, Cookson WO, Cardon LR: Merlin-rapid analysis of dense genetic maps using sparse gene flow trees. Nat Genet 2002; 30: 97-101.
5. Li H, Handsaker B, Wysoker A et al: The Sequence Alignment/Map format and SAMtools. Bioinformatics 2009; 25: 2078-2079.
6. Li H: Improving SNP discovery by base alignment quality. Bioinformatics 2011; 27: 1157-1158.
7. Leutenegger AL, Prum B, Genin E et al: Estimation of the inbreeding coefficient through use of genomic data. Am J Hum Genet 2003; 73: 516-523.
8. Purcell S, Neale B, Todd-Brown K et al: PLINK: a tool set for whole-genome association and population-based linkage analyses. Am J Hum Genet 2007; 81: 559-575.
9. Buschman MD, Bromann PA, Cejudo-Martin P, Wen F, Pass I, Courtneidge SA: The novel adaptor protein Tks4 (SH3PXD2B) is required for functional podosome formation. Mol Biol Cell 2009; 20: 1302-1311.
10. Gimona M, Buccione R, Courtneidge SA, Linder S: Assembly and biological role of podosomes and invadopodia. Curr Opin Cell Biol 2008; 20: 235-241.
11. Binks M, Jones GE, Brickell PM, Kinnon C, Katz DR, Thrasher AJ: Intrinsic dendritic cell abnormalities in Wiskott-Aldrich syndrome. Eur J Immunol 1998; 28: 3259-3267.
12. Carman CV, Sage PT, Sciuto TE et al: Transcellular diapedesis is initiated by invasive podosomes. Immunity 2007; 26: 784-797.
13. Lehto VP, Hovi T, Vartio T, Badley RA, Virtanen I: Reorganization of cytoskeletal and contractile elements during transition of human monocytes into adherent macrophages. Lab Invest 1982; 47: 391-399.
14. Marchisio PC, Cirillo D, Naldini L, Primavera MV, Teti A, Zambonin-Zallone A: Cell-substratum interaction of cultured avian osteoclasts is mediated by specific adhesion structures. J Cell Biol 1984; 99: 1696-1705.
15. Moreau V, Tatin F, Varon C, Genot E: Actin can reorganize into podosomes in aortic endothelial cells, a process controlled by Cdc42 and RhoA. Mol Cell Biol 2003; 23: 6809-6822.
16. Thompson O, Kleino I, Crimaldi L, Gimona M, Saksela K, Winder SJ: Dystroglycan, Tks5 and Src mediated assembly of podosomes in myoblasts. PLoS One 2008; 3: e3638.
17. Iqbal Z, Cejudo-Martin P, de Brouwer A et al: Disruption of the podosome adaptor protein TKS4 (SH3PXD2B) causes the skeletal dysplasia, eye, and cardiac abnormalities of Frank-Ter Haar Syndrome. Am J Hum Genet 2010; 86: 254-261.
18. Mao M, Thedens DR, Chang B et al: The podosomal-adaptor protein SH3PXD2B is essential for normal postnatal development. Mamm Genome 2009; 20: 462-475.
19. Frank Y, Ziprkowski M, Romano A et al: Megalocornea associated with multiple skeletal anomalies: a new genetic syndrome? J Genet Hum 1973; 21: 67-72.
20. Hamel BC, Draaisma JM, Pinckers AJ et al: Autosomal recessive Melnick-Needles syndrome or ter Haar syndrome? Report of a patient and reappraisal of an earlier report. Am J Med Genet 1995; 56: 312-316.
21. Maas SM, Kayserili H, Lam J, Apak MY, Hennekam RC: Further delineation of Frank-ter Haar syndrome. Am J Med Genet A 2004; 131: 127-133.
22. Megarbane A, Tomey K, Wakim G: Congenital glaucoma, limb deformities, skeletal dysplasia, and facial anomalies: report of another family. Am J Med Genet 1997; 73: 67-71.
23. ter Haar B, Hamel B, Hendriks J, de Jager J: Melnick-Needles syndrome: indication for an autosomal recessive form. Am J Med Genet 1982; 13: 469-477.
24. Wallerstein R, Scott CI Jr., Nicholson L: Extended survival in a new case of ter Haar syndrome: further delineation of the syndrome. Am J Med Genet 1997; 70: 267-272.
25. Mao M, Hedberg-Buenz A, Koehn D, John SW, Anderson MG: Anterior segment dysgenesis and early-onset glaucoma in nee mice with mutation of Sh3pxd2b. Invest Ophthalmol Vis Sci 2011; 52: 2679-2688.