Targeted massively parallel sequencing provides comprehensive genetic diagnosis for patients with disorders of sex development

Clinical Genetics

Volumn 83, Issue 1, 2013, Pages 35-43

  Arboleda, Va ^a   Lee, H ^a   Sánchez, Fj ^a   Délot, Ec ^a   Sandberg, De ^b   Grody, Ww ^a   Nelson, Sf ^a   Vilain, E ^a  

^a UNIVERSITY OF CALIFORNIA   (United States)

^b UNIVERSITY OF MICHIGAN MEDICAL SCHOOL   (United States)

Author keywords

DNA sequencing; Endocrinology; Genetic testing; High throughput; Sexual development

Indexed keywords

ARTICLE; CAMPOMELIC DYSPLASIA; CHROMOSOME DELETION; CHROMOSOME DUPLICATION; CLINICAL ARTICLE; CLINICAL FEATURE; COPY NUMBER VARIATION; FEMALE; GALACTOSEMIA; GENE SEQUENCE; GENETIC PROCEDURES; GENETIC SCREENING; GENOTYPE; GONADAL DYSGENESIS; HUMAN; INDEL MUTATION; KARYOTYPE; KLINEFELTER SYNDROME; MALE; MOLECULAR DIAGNOSIS; PRIORITY JOURNAL; RNA PROBE; SEX DIFFERENTIATION DISORDER; SINGLE NUCLEOTIDE POLYMORPHISM; TURNER SYNDROME; X CHROMOSOME; Y CHROMOSOME;

DISORDERS OF SEX DEVELOPMENT; DNA COPY NUMBER VARIATIONS; HEMATOLOGIC TESTS; HIGH-THROUGHPUT NUCLEOTIDE SEQUENCING; HUMANS; MUTATION; PATHOLOGY, MOLECULAR; RISK FACTORS;

EID: 84871212768     PISSN: 00099163     EISSN: 13990004     Source Type: Journal    
DOI: 10.1111/j.1399-0004.2012.01879.x     Document Type: Article

References (28)

1. Lux A, Kropf S, Kleinemeier E, Jürgensen M, Thyen U, DSD Network Working Group. Clinical evaluation study of the German network of disorders of sex development (DSD)/intersexuality: study design, description of the study population, and data quality. BMC Public Health 2009: 9: 110.
2. Hughes IA, Houk C, Ahmed SF, Lee PA, Lawson Wilkins Pediatric Endocrine Society/European Society for Paediatric Endocrinology Consensus Group. Consensus statement on management of intersex disorders. J Pediatr Urol 2006: 2: 148-162.
3. Stein MT, Sandberg DE, Mazur T, Eugster E, Daaboul J. A newborn infant with a disorder of sexual differentiation. J Dev Behav Pediatr 2003: 115-119.
4. Meyer-Bahlburg HFL. Gender assignment and psychosocial management. In: Martin L, ed. Encyclopedia of endocrine diseases, Vol. 1. Amsterdam: Elsevier, 2004: 125-134.
5. Warne GL. Long-term outcome of disorders of sex development. Sex Dev 2008: 2: 268-277.
6. Easton DF, Steele L, Fields P et al. Cancer risks in two large breast cancer families linked to BRCA2 on chromosome 13q12-13. Am J Hum Genet 1997: 61: 120-128.
7. Goldgar DE, Easton DF, Deffenbaugh AM et al. Integrated evaluation of DNA sequence variants of unknown clinical significance: application to BRCA1 and BRCA2. Am J Hum Genet 2004: 75: 535-544.
8. Gnirke A, Melnikov A, Maguire J et al. Solution hybrid selection with ultra-long oligonucleotides for massively parallel targeted sequencing. Nat Biotechnol 2009: 27: 182-189.
9. Li H, Handsaker B, Wysoker A et al. The Sequence Alignment/Map format and SAM tools. Bioinformatics 2009: 25: 2078-2079.
10. O'Connor BD, Merriman B, Nelson SF. SeqWare Query Engine: storing and searching sequence data in the cloud. BMC Bioinformatics 2010: 11 (Suppl. 12): S2.
11. Adzhubei IA, Schmidt S, Peshkin L et al. A method and server for predicting damaging missense mutations. Nat Methods 2010: 7: 248-249.
12. Kumar P, Henikoff S, Ng PC. Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm. Nat Protoc 2009: 4: 1073-1081.
13. Reva B, Antipin Y, Sander C. Predicting the functional impact of protein mutations: application to cancer genomics. Nucleic Acids Res 2011.
14. Chan PA, Duraisamy S, Miller PJ et al. Interpreting missense variants: comparing computational methods in human disease genes CDKN2A, MLH1, MSH2, MECP2, and tyrosinase (TYR). Hum Mutat 2007: 28: 683-693.
15. Sathirapongsasuti JF, Lee H, Horst BA et al. Exome sequencing-based copy-number variation and loss of heterozygosity detection: exome CNV. Bioinformatics 2011: 27: 2648-2654.
16. Shearer AE, DeLuca AP, Hildebrand MS et al. Comprehensive genetic testing for hereditary hearing loss using massively parallel sequencing. Proc Natl Acad Sci U S A 2010: 107: 21104-21109.
17. Sekido R, Lovell-Badge R. Sex determination involves synergistic action of SRY and SF1 on a specific Sox9 enhancer. Nature 2008: 453: 930-934.
18. Finkielstain GP, Chen W, Mehta SP et al. Comprehensive genetic analysis of 182 unrelated families with congenital adrenal hyperplasia due to 21-hydroxylase deficiency. J Clin Endocrinol Metab 2011: 96: E161-E172.
19. Tavtigian S. Unclassified variants in the breast cancer susceptibility genes BRCA1 and BRCA2. In: Welcsh P, ed. The role of genetics in breast and reproductive cancers. New York, NY: Springer, 2009: 49-73.
20. Ion A, Telvi L, Chaussain JL et al. A novel mutation in the putative DNA helicase XH2 is responsible for male-to-female sex reversal associated with an atypical form of the ATR-X syndrome. Am J Hum Genet 1996: 58: 1185-1191.
21. White S, Ohnesorg T, Notini A et al. Copy number variation in patients with disorders of sex development due to 46, XY gonadal dysgenesis. PLoS One 2011: 6: e17793.
22. Tannour-Louet M, Han S, Corbett ST et al. Identification of de novo copy number variants associated with human disorders of sexual development. PLoS One 2010: 5: e15392.
23. Holtzman NA, Murphy PD, Watson MS, Barr PA. Predictive genetic testing: from basic research to clinical practice. Science 1997: 278: 602-605.
24. Krone N, Arlt W. Genetics of congenital adrenal hyperplasia. Best Pract Res Clin Endocrinol Metab 2009: 23: 181-192.
25. Walsh T, Lee MK, Casadei S et al. Detection of inherited mutations for breast and ovarian cancer using genomic capture and massively parallel sequencing. Proc Natl Acad Sci U S A 2010: 107: 12629-12633.
26. Raca G, Jackson C, Warman B, Bair T, Schimmenti LA. Next generation sequencing in research and diagnostics of ocular birth defects. Mol Genet Metab 2010: 100: 184-192.
27. Wheeler M, Pavlovic A, DeGoma E, Salisbury H, Brown C, Ashley EA. A new era in clinical genetic testing for hypertrophic cardiomyopathy. J Cardiovasc Transl Res 2009: 2: 381-391.
28. Geelhoed EA, Harrison K, Davey A, Walpole IR. Parental perspective of the benefits of genetic testing in children with congenital deafness. Public Health Genomics 2009: 12: 245-250.