576kb deletion in 1p36.33-p36.32 containing SKI is associated with limb malformation, congenital heart disease and epilepsy

Gene

Volumn 528, Issue 2, 2013, Pages 352-355

  Zhu, Xin ^a   Zhang, Yi ^a   Wang, Jian ^b   Yang, Jin Fu ^b   Yang, Yi Feng ^b   Tan, Zhi Ping ^b  

^a CENTRAL SOUTH UNIVERSITY   (China)

^b CENTRAL SOUTH UNIVERSITY   (China)

Author keywords

1p36 deletion; Congenital heart defect; Copy number variation; Epilepsy; Shprintzen Goldberg syndrome; SNP array

Indexed keywords

GENOMIC DNA; ONCOPROTEIN; SLOAN KETTERING INSTITUTE PROTOONCOPROTEIN; UNCLASSIFIED DRUG; DNA BINDING PROTEIN; SKI PROTEIN, HUMAN;

ARTICLE; CASE REPORT; CHILD; CHROMOSOME 1P; CHROMOSOME ANALYSIS; CHROMOSOME DELETION; CLINICAL FEATURE; COLOR ULTRASOUND FLOWMETRY; COMPUTER ASSISTED TOMOGRAPHY; COPY NUMBER VARIATION; DEVELOPMENTAL DISORDER; DOPPLER ECHOCARDIOGRAPHY; EPILEPSY; HEART ATRIUM SEPTUM DEFECT; HUMAN; HUMAN TISSUE; LIMB MALFORMATION; MALE; PRESCHOOL CHILD; PRIORITY JOURNAL; REAL TIME POLYMERASE CHAIN REACTION; SINGLE NUCLEOTIDE POLYMORPHISM; 1P36 DELETION; ADOLESCENT; CHD; CHROMOSOME 1; CNV; CONGENITAL HEART DEFECTS; CONGENITAL HEART MALFORMATION; CT; DATABASE OF GENOMIC VARIANTS; DGV; FEMALE; GENE DELETION; GENETIC ASSOCIATION; GENETICS; HAND MALFORMATION; HEART SEPTUM DEFECT; HG19; HUMAN GENOME 19; MULTIPLE MALFORMATION SYNDROME; OMIM; ONLINE MENDELIAN INHERITANCE IN MAN; PCR; POLYMERASE CHAIN REACTION; SGS; SHPRINTZEN-GOLDBERG SYNDROME; SNP; SNP ARRAY; SYNDROME;

1P36 DELETION; ASD; ATRIAL SEPTAL DEFECT; CHD; CNV; COMPUTED TOMOGRAPHY; CONGENITAL HEART DEFECT; CONGENITAL HEART DEFECTS; COPY NUMBER VARIATION; CT; DATABASE OF GENOMIC VARIANTS; DGV; EPILEPSY; HG19; HUMAN GENOME 19; OMIM; ONLINE MENDELIAN INHERITANCE IN MAN; PCR; POLYMERASE CHAIN REACTION; SGS; SHPRINTZEN-GOLDBERG SYNDROME; SINGLE NUCLEOTIDE POLYMORPHISM; SNP; SNP ARRAY;

ABNORMALITIES, MULTIPLE; ADOLESCENT; CHILD, PRESCHOOL; CHROMOSOMES, HUMAN, PAIR 1; DNA-BINDING PROTEINS; EPILEPSY; FEMALE; GENE DELETION; GENETIC ASSOCIATION STUDIES; HAND DEFORMITIES, CONGENITAL; HEART SEPTAL DEFECTS, ATRIAL; HUMANS; MALE; POLYMORPHISM, SINGLE NUCLEOTIDE; PROTO-ONCOGENE PROTEINS; SYNDROME;

EID: 84883049635     PISSN: 03781119     EISSN: 18790038     Source Type: Journal    
DOI: 10.1016/j.gene.2013.07.024     Document Type: Article

References (22)

1. Zenker M., et al. Monosomy 1p36-a recently delineated, clinically recognizable syndrome. Clin. Dysmorphol. 2002, 11:43-48.
2. Heilstedt H.A., et al. Physical map of 1p36, placement of breakpoints in monosomy 1p36, and clinical characterization of the syndrome. Am. J. Hum. Genet. 2003, 72:1200-1212.
3. Gajecka M., Mackay K.L., Shaffer L.G. Monosomy 1p36 deletion syndrome. Am. J. Med. Genet. C: Semin. Med. Genet. 2007, 145C:346-356.
4. Battaglia A., et al. Further delineation of deletion 1p36 syndrome in 60 patients: a recognizable phenotype and common cause of developmental delay and mental retardation. Pediatrics 2008, 121:404-410.
5. Bursztejn A.C., Bronner M., Peudenier S., Gregoire M.J., Jonveaux P., Nemos C. Molecular characterization of a monosomy 1p36 presenting as an Aicardi syndrome phenocopy. Am. J. Med. Genet. A 2009, 149A:2493-2500.
6. Buck A., du Souich C., Boerkoel C.F. Minimal genotype-phenotype correlation for small deletions within distal 1p36. Am. J. Med. Genet. A 2011, 155A:3164-3169.
7. Rosenfeld J.A., et al. Refinement of causative genes in monosomy 1p36 through clinical and molecular cytogenetic characterization of small interstitial deletions. Am. J. Med. Genet. A 2010, 152A:1951-1959.
8. Biesecker L.G. Polydactyly: how many disorders and how many genes? 2010 update. Dev. Dyn. 2011, 240:931-942.
9. Chen J.L., Yang Y.F., Huang C., Wang J., Yang J.F., Tan Z.P. Clinical and molecular delineation of 16p13.3 duplication in a patient with congenital heart defect and multiple congenital anomalies. Am. J. Med. Genet. A 2012, 158A:685-688.
10. Luo H., et al. Duplication of 8q12 encompassing CHD7 is associated with a distinct phenotype but without duane anomaly. Eur. J. Med. Genet. 2012, 55:646-649.
11. Doyle A.J., et al. Mutations in the TGF-beta repressor SKI cause Shprintzen-Goldberg syndrome with aortic aneurysm. Nat. Genet. 2012, 44:1249-1254.
12. Carmignac V., et al. In-frame mutations in exon 1 of SKI cause dominant Shprintzen-Goldberg syndrome. Am. J. Hum. Genet. 2012, 91:950-957.
13. Livak K.J., Schmittgen T.D. Analysis of relative gene expression data using real-time quantitative PCR and the 2(-Delta Delta C(T)) Method. Methods 2001, 25:402-408.
14. Sood S., Eldadah Z.A., Krause W.L., McIntosh I., Dietz H.C. Mutation in fibrillin-1 and the Marfanoid-craniosynostosis (Shprintzen-Goldberg) syndrome. Nat. Genet. 1996, 12:209-211.
15. Kosaki K., et al. Molecular pathology of Shprintzen-Goldberg syndrome. Am. J. Med. Genet. A 2006, 140:104-108. (author reply 109-110).
16. Luo K. Ski and SnoN: negative regulators of TGF-beta signaling. Curr. Opin. Genet. Dev. 2004, 14:65-70.
17. Colmenares C., et al. Loss of the SKI proto-oncogene in individuals affected with 1p36 deletion syndrome is predicted by strain-dependent defects in Ski-/- mice. Nat. Genet. 2002, 30:106-109.
18. Berk M., Desai S.Y., Heyman H.C., Colmenares C. Mice lacking the ski proto-oncogene have defects in neurulation, craniofacial, patterning, and skeletal muscle development. Genes Dev. 1997, 11:2029-2039.
19. Heilstedt H.A., et al. Loss of the potassium channel beta-subunit gene, KCNAB2, is associated with epilepsy in patients with 1p36 deletion syndrome. Epilepsia 2001, 42:1103-1111.
20. Windpassinger C., Kroisel P.M., Wagner K., Petek E. The human gamma-aminobutyric acid A receptor delta (GABRD) gene: molecular characterisation and tissue-specific expression. Gene 2002, 292:25-31.
21. Clatot J., et al. Dominant-negative effect of SCN5A N-terminal mutations through the interaction of Na(v)1.5 alpha-subunits. Cardiovasc. Res. 2012, 96:53-63.
22. Redon R., et al. Tiling path resolution mapping of constitutional 1p36 deletions by array-CGH: contiguous gene deletion or "deletion with positional effect" syndrome?. J. Med. Genet. 2005, 42:166-171.