Exome sequencing identifies a novel homozygous variant in NDRG4 in a family with infantile myofibromatosis

European Journal of Medical Genetics

Volumn 57, Issue 11-12, 2014, Pages 643-648

  Linhares, Natália D ^a   Freire, Maíra C M ^a   Cardenas, Raony G C C L ^a   Pena, Heloísa B ^b   Bahia, Magda ^a   Pena, Sergio D J ^a,b  

^a FEDERAL UNIVERSITY OF MINAS GERAIS   (Brazil)

^b Laboratório Gene Núcleo de Genética Médica   (Brazil)

Author keywords

Congenital generalized fibromatosis; Exome sequencing; Myofibromatosis; NDRG4 gene; Neoplasms

Indexed keywords

DNA; MUSCLE PROTEIN; NDRG4 PROTEIN, HUMAN; NERVE PROTEIN;

ARTICLE; AUTOSOMAL RECESSIVE DISORDER; BENIGN TUMOR; CASE REPORT; CHILD; CONGENITAL GENERALIZED FIBROMATOSIS; EXOME; EXOME SEQUENCING; FAMILY STUDY; GENE; HUMAN; HUMAN TISSUE; INFANT DISEASE; INFANTILE MYOFIBROMATOSIS; MALE; MOLECULAR PATHOLOGY; NDRG4 GENE; PHENOTYPE; TUMOR SUPPRESSOR GENE; AMINO ACID SEQUENCE; CONSANGUINITY; ECHOGRAPHY; GENETICS; HOMOZYGOTE; MISSENSE MUTATION; MOLECULAR GENETICS; MYOFIBROMATOSIS; NUCLEOTIDE SEQUENCE; SINGLE NUCLEOTIDE POLYMORPHISM;

AMINO ACID SEQUENCE; BASE SEQUENCE; CHILD; CONSANGUINITY; DNA MUTATIONAL ANALYSIS; EXOME; HOMOZYGOTE; HUMANS; MALE; MOLECULAR SEQUENCE DATA; MUSCLE PROTEINS; MUTATION, MISSENSE; MYOFIBROMATOSIS; NERVE TISSUE PROTEINS; POLYMORPHISM, SINGLE NUCLEOTIDE;

EID: 84918544045     PISSN: 17697212     EISSN: 18780849     Source Type: Journal    
DOI: 10.1016/j.ejmg.2014.08.010     Document Type: Article

References (31)

1. Alberti L.R., Souto Bittencourt P.F., Rodrigues Ferreira A., Rodrigues Da Silva R.R., Diniz Carvalho S., Nunes Cachicolo F.M., et al. Multicentric infantile myofibromatosis of the small bowel detected by video capsule endoscopy in a child. Endoscopy 2012, 44(Suppl.2 UCTN):E258-E259.
2. Carr I.M., Bhaskar S., O'Sullivan J., Aldahmesh M.A., Shamseldin H.E., Markham A.F., et al. Autozygosity mapping with exome sequence data. Hum Mutat 2013, 34:50-56.
3. Carr I.M., Markham S.A., Pena S.D. Estimating the degree of identity by descent in consanguineous couples. Hum Mutat 2011, 32:1350-1358.
4. Cheung Y.H., Gayden T., Campeau P.M., Leduc C.A., Russo D., Nguyen V.H., et al. Arecurrent PDGFRB mutation causes familial infantile myofibromatosis. AmJHum Genet 2013, 92:996-1000.
5. Chung E.B., Enzinger F.M. Infantile myofibromatosis. Cancer 1981, 48:1807-1818.
6. Gandhi M.M., Nathan P.C., Weitzman S., Levitt G.A. Successful treatment of life-threatening generalized infantile myofibromatosis using low-dose chemotherapy. JPediatr Hematol Oncol 2003, 25:750-754.
7. Gatibelza M.E., Vazquez B.R., Bereni N., Denis D., Bardot J., Degardin N. Isolated infantile myofibromatosis of the upper eyelid: uncommon localization and long-term results after surgical management. JPediatr Surg 2012, 47:1457-1459.
8. Huang C.J., Lin K.L., Jung S.M., Wu C.T., Wang H.S. Infantile myofibromatosis presenting with scalp dermoid cyst. Pediatr Neurol 2005, 33:296-299.
9. Jin S., Hansson E.M., Tikka S., Lanner F., Sahlgren C., Farnebo F., et al. Notch signaling regulates platelet-derived growth factor receptor-beta expression in vascular smooth muscle cells. Circ Res 2008, 102:1483-1491.
10. Liang Y., Cucchetti M., Roncagalli R., Yokosuka T., Malzac A., Bertosio E., et al. The lymphoid lineage-specific actin-uncapping protein Rltpr is essential for costimulation via CD28 and the development of regulatory T cells. Nat Immunol 2013, 14:858-866.
11. Martignetti J.A., Tian L., Li D., Ramirez M.C., Camacho-Vanegas O., Camacho S.C., et al. Mutations in PDGFRB cause autosomal-dominant infantile myofibromatosis. Am J Hum Genet 2013, 92:1001-1007.
12. Matsuzaka Y., Okamoto K., Mabuchi T., Iizuka M., Ozawa A., Oka A., et al. Identification, expression analysis and polymorphism of a novel RLTPR gene encoding a RGD motif, tropomodulin domain and proline/leucine-rich regions. Gene 2004, 343:291-304.
13. Miller S.A., Dykes D.D., Polesky H.F. Asimple salting out procedure for extracting DNA from human nucleated cells. Nucleic Acids Res 1988, 16:1215.
14. Nishimoto S., Tawara J., Toyoda H., Kitamura K., Komurasaki T. Anovel homocysteine-responsive gene, smap8, modulates mitogenesis in rat vascular smooth muscle cells. Eur J Biochem 2003, 270:2521-2531.
15. Orbach D. Infantile myofibromatosis November 2013, Orphanet Encyclopedia, Available from. http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Expert=2591.
16. Stout A.P. Juvenile fibromatoses. Cancer 1954, 7:953-978.
17. Tamburrini G., Gessi M., Colosimo C., Lauriola L., Giangaspero F., Di Rocco C. Infantile myofibromatosis of the central nervous system. Child's Nerv Syst 2003, 19:650-654.
18. Wiswell T.E., Davis J., Cunningham B.E., Solenberger R., Thomas P.J. Infantile myofibromatosis: the most common fibrous tumor of infancy. JPediatr Surg 1988, 23:315-318.
19. Yang X., An L., Li X. NDRG3 and NDRG4, two novel tumor-related genes. Biomed Pharmacother 2013, 67:681-684.
20. Zand D.J., Huff D., Everman D., Russell K., Saitta S., McDonald-McGinn D., et al. Autosomal dominant inheritance of infantile myofibromatosis. Am J Med Genet A 2004, 126A:261-266.
21. 1000 Genomes,. http://browser.1000genomes.org.
22. Ensembl Genome Browser,. http://www.ensembl.org/index.html.
23. Genome Analysis Toolkit (GATK),. http://www.broadinstitute.org/gatk/.
24. Mutation Taster,. http://www.mutationtaster.org/.
25. NCBI dnSNP,. http://www.ncbi.nlm.nih.gov/projects/SNP/.
26. NHLBI Exome Sequencing Project (ESP),. http://evs.gs.washington.edu/EVS/.
27. Online Mendelian Inheritance in Man (OMIM),. http://www.omim.org/.
28. PolyPhen-2,. http://genetics.bwh.harvard.edu/pph2/.
29. SIFT,. http://sift.jcvi.org/.
30. SnpEff,. http://snpeff.sourceforge.net/.
31. UCSC Genome Browser,. http://genome.ucsc.edu.