Functionally compromised CHD7 alleles in patients with isolated GnRH deficiency

Proceedings of the National Academy of Sciences of the United States of America

Volumn 111, Issue 50, 2014, Pages 17953-17958

  Balasubramanian, Ravikumar ^a,b   Choi, Jin Ho ^a,c   Francescatto, Ludmila ^d   Willer, Jason ^d   Horton, Edward R ^a   Asimacopoulos, Eleni P ^b,e   Stankovic, Konstantina M ^b,e   Plummer, Lacey ^a   Buck, Cassandra L ^a   Quinton, Richard ^f   Nebesio, Todd D ^g   Mericq, Veronica ^h   Merino, Paulina M ^h   Meyer, Brian F ⁱ   Monies, Dorota ⁱ   Gusella, James F ^a,b   Al Tassan, Nada ⁱ   Katsanis, Nicholas ^d   Crowley, William F ^a,b  

^a MASSACHUSETTS GENERAL HOSPITAL   (United States)

^b HARVARD MEDICAL SCHOOL   (United States)

^c University of Ulsan College of Medicine   (South Korea)

^d DUKE UNIVERSITY SCHOOL OF MEDICINE   (United States)

^e MASSACHUSETTS EYE AND EAR INFIRMARY   (United States)

^f NEWCASTLE UNIVERSITY   (United Kingdom)

^g INDIANA UNIVERSITY SCHOOL OF MEDICINE   (United States)

^h UNIVERSITY OF CHILE   (Chile)

ⁱ KING FAISAL SPECIALIST HOSPITAL AND RESEARCH CENTER   (Saudi Arabia)

Author keywords

CHARGE syndrome; CHD7; Idiopathic hypogonadotropic hypogondism; Kallmann syndrome; Missense mutations

Indexed keywords

CHROMODOMAIN HELICASE DNA BINDING PROTEIN 7; DNA BINDING PROTEIN; GONADORELIN; HELICASE; MESSENGER RNA; UNCLASSIFIED DRUG; CHD7 PROTEIN, HUMAN; DNA HELICASE;

ALLELE; ANIMAL EXPERIMENT; ANIMAL MODEL; ARTICLE; CONTROLLED STUDY; DISEASE MARKER; ENDOPHENOTYPE; EXON; FEMALE; FRAMESHIFT MUTATION; GENE DELETION; GENE FREQUENCY; GENETIC VARIABILITY; HORMONE DEFICIENCY; HUMAN; INTRON; ISOLATED GONADOTROPIN RELEASING HORMONE DEFICIENCY; MAJOR CLINICAL STUDY; MALE; MISSENSE MUTATION; MOLECULAR PATHOLOGY; NONHUMAN; ONTOGENY; PHENOTYPE; SEGREGATION ANALYSIS; SYNDROME CHARGE; ZEBRA FISH; ANIMAL; DEFICIENCY; DNA SEQUENCE; GENE SILENCING; GENETICS; KALLMANN SYNDROME; METABOLISM; MOLECULAR GENETICS; NUCLEOTIDE SEQUENCE; NUTRITIONAL DEFICIENCY; PATHOLOGY; PROTEIN TERTIARY STRUCTURE; VESTIBULE;

DANIO RERIO;

ANIMALS; BASE SEQUENCE; CHARGE SYNDROME; DEFICIENCY DISEASES; DNA HELICASES; DNA-BINDING PROTEINS; GENE KNOCKDOWN TECHNIQUES; GONADOTROPIN-RELEASING HORMONE; HUMANS; KALLMANN SYNDROME; MOLECULAR SEQUENCE DATA; MUTATION, MISSENSE; OTOLITHIC MEMBRANE; PHENOTYPE; PROTEIN STRUCTURE, TERTIARY; SEQUENCE ANALYSIS, DNA; ZEBRAFISH;

EID: 84918576772     PISSN: 00278424     EISSN: 10916490     Source Type: Journal    
DOI: 10.1073/pnas.1417438111     Document Type: Article

References (34)

1. Vissers LE, et al. (2004) Mutations in a new member of the chromodomain gene family cause CHARGE syndrome. Nat Genet 36(9):955-957.
2. Sanlaville D, Verloes A (2007) CHARGE syndrome: An update. Eur J Hum Genet 15(4):389-399.
3. Blake KD, Prasad C (2006) CHARGE syndrome. Orphanet J Rare Dis 1:34.
4. Bergman JE, et al. (2011) CHD7 mutations and CHARGE syndrome: The clinical implications of an expanding phenotype. J Med Genet 48(5):334-342.
5. Bartels CF, Scacheri C, White L, Scacheri PC, Bale S (2010) Mutations in the CHD7 gene: The experience of a commercial laboratory. Genet Test Mol Biomarkers 14(6):881-891.
6. Janssen N, et al. (2012) Mutation update on the CHD7 gene involved in CHARGE syndrome. Hum Mutat 33(8):1149-1160.
7. Wheeler PG, Quigley CA, Sadeghi-Nejad A, Weaver DD (2000) Hypogonadism and CHARGE association. Am J Med Genet 94(3):228-231.
8. Kim HG, et al. (2008) Mutations in CHD7, encoding a chromatin-remodeling protein, cause idiopathic hypogonadotropic hypogonadism and Kallmann syndrome. Am J Hum Genet 83(4):511-519.
9. Jongmans MC, et al. (2009) CHD7 mutations in patients initially diagnosed with Kallmann syndrome - The clinical overlap with CHARGE syndrome. Clin Genet 75(1):65-71.
10. Foppiani L, Maffè A, Forzano F (2010) CHARGE syndrome as unusual cause of hypogonadism: Endocrine and molecular evaluation. Andrologia 42(5):326-330.
11. Pinto G, et al. (2005) CHARGE syndrome includes hypogonadotropic hypogonadism and abnormal olfactory bulb development. J Clin Endocrinol Metab 90(10):5621-5626.
12. Crowley WF (2011) The developmental biology of the GnRH neurons. Mol Cell Endocrinol 346(1-2):1-3.
13. Balasubramanian R, Crowley WF, Jr (2011) Isolated GnRH deficiency: A disease model serving as a unique prism into the systems biology of the GnRH neuronal network. Mol Cell Endocrinol 346(1-2):4-12.
14. Schwanzel-Fukuda M, Pfaff DW (1989) Origin of luteinizing hormone-releasing hormone neurons. Nature 338(6211):161-164.
15. Bergman JE, et al. (2012) The results of CHD7 analysis in clinically well-characterized patients with Kallmann syndrome. J Clin Endocrinol Metab 97(5):E858-E862.
16. Marcos S, et al. (2014) The prevalence of CHD7 missense versus truncating mutations is higher in patients with Kallmann syndrome than in typical CHARGE patients. J Clin Endocrinol Metab 99(10):E2138-E2143.
17. Verloes A (2005) Updated diagnostic criteria for CHARGE syndrome: A proposal. Am J Med Genet A 133A(3):306-308.
18. Thusberg J, Olatubosun A, Vihinen M (2011) Performance of mutation pathogenicity prediction methods on missense variants. Hum Mutat 32(4):358-368.
19. Patten SA, et al. (2012) Role of Chd7 in zebrafish: A model for CHARGE syndrome. PLoS ONE 7(2):e31650.
20. Bordoli L, et al. (2009) Protein structure homology modeling using SWISS-MODEL workspace. Nat Protoc 4(1):1-13.
21. Van Durme J, et al. (2011) A graphical interface for the FoldX forcefield. Bio-informatics 27(12):1711-1712.
22. Bergman JE, et al. (2012) A novel classification system to predict the pathogenic effects of CHD7 missense variants in CHARGE syndrome. Hum Mutat 33(8):1251-1260.
23. Pauli S, et al. (2012) CHD7 mutations causing CHARGE syndrome are predominantly of paternal origin. Clin Genet 81(3):234-239.
24. Sykiotis GP, et al. (2010) Oligogenic basis of isolated gonadotropin-releasing hormone deficiency. Proc Natl Acad Sci USA 107(34):15140-15144.
25. Delahaye A, et al. (2007) Familial CHARGE syndrome because of CHD7 mutation: Clinical intra- and interfamilial variability. Clin Genet 72(2):112-121.
26. Vuorela P, et al. (2007) Molecular analysis of the CHD7 gene in CHARGE syndrome: Identification of 22 novel mutations and evidence for a low contribution of large CHD7 deletions. Genet Med 9(10):690-694.
27. Tennessen JA, et al.; Broad GO; Seattle GO; NHLBI Exome Sequencing Project (2012) Evolution and functional impact of rare coding variation from deep sequencing of human exomes. Science 337(6090):64-69.
28. Colin C, Tobaruella FS, Correa RG, Sogayar MC, Demasi MA (2010) Cloning and characterization of a novel alternatively spliced transcript of the human CHD7 putative helicase. BMC Res Notes 3:252.
29. Kita Y, Nishiyama M, Nakayama KI (2012) Identification of CHD7S as a novel splicing variant of CHD7 with functions similar and antagonistic to those of the full-length CHD7L. Genes Cells 17(7):536-547.
30. Bergman JE, Bosman EA, van Ravenswaaij-Arts CM, Steel KP (2010) Study of smell and reproductive organs in a mouse model for CHARGE syndrome. Eur J Hum Genet 18(2):171-177.
31. Layman WS, Hurd EA, Martin DM (2011) Reproductive dysfunction and decreased GnRH neurogenesis in a mouse model of CHARGE syndrome. Hum Mol Genet 20(16):3138-3150.
32. Schulz Y, et al. (2014) CHD7, the gene mutated in CHARGE syndrome, regulates genes involved in neural crest cell guidance. Hum Genet 133(8):997-1009.
33. Pingault V, et al. (2013) Loss-of-function mutations in SOX10 cause Kallmann syndrome with deafness. Am J Hum Genet 92(5):707-724.
34. Exome Variant Server, NHLBI GO Exome Sequencing Project (ESP) Seattle, WA. Available at evs.gs.washington.edu/EVS. Accessed November 26, 2013.