Deletions in the 3′ part of the NFIX gene including a recurrent alu-mediated deletion of exon 6 and 7 account for previously unexplained cases of marshall-smith syndrome

Human Mutation

Volumn 35, Issue 9, 2014, Pages 1092-1100

  Schanze, Denny ^a   Neubauer, Dorothée ^a   Cormier Daire, Valerie ^b   Delrue, Marie Ange ^c   Dieux Coeslier, Anne ^d   Hasegawa, Tomonobu ^e   Holmberg, Eva E ^f   Koenig, Rainer ^g   Krueger, Gabriele ^h   Schanze, Ina ^a   Seemanova, Eva ⁱ   Shaw, Adam C ^j   Vogt, Julie ^k   Volleth, Marianne ^a   Reis, André ^l   Meinecke, Peter ^m   Hennekam, Raoul C M ⁿ   Zenker, Martin ^a,l  

^a UNIVERSITY HOSPITAL MAGDEBURG   (Germany)

^b INSERM   (France)

^c HÔPITAL PELLEGRIN   (France)

^d LILLE UNIVERSITY HOSPITAL   (France)

^e KEIO UNIVERSITY SCHOOL OF MEDICINE   (Japan)

^f OSLO UNIVERSITY HOSPITAL   (Norway)

^g UNIVERSITY HOSPITAL FRANKFURT   (Germany)

^h ROSTOCK UNIVERSITY MEDICAL CENTER   (Germany)

ⁱ CHARLES UNIVERSITY   (Czech Republic)

^j GUY'S AND ST THOMAS' NHS FOUNDATION TRUST   (United Kingdom)

^k BIRMINGHAM WOMEN S HOSPITAL   (United Kingdom)

^l UNIVERSITY OF ERLANGEN NUREMBERG   (Germany)

^m UNIVERSITY MEDICAL CENTER HAMBURG EPPENDORF   (Germany)

ⁿ UNIVERSITY OF AMSTERDAM   (Netherlands)

more..

Author keywords

Intellectual disability; Marshall Smith syndrome; NFIX; Nonsense mediated decay; Nuclear factor 1 X

Indexed keywords

GENOMIC DNA; MESSENGER RNA; NUCLEAR FACTOR; NUCLEAR FACTOR I X; UNCLASSIFIED DRUG; NFIX PROTEIN, HUMAN; NUCLEAR FACTOR I;

ADOLESCENT; AGAR GEL ELECTROPHORESIS; ARTICLE; CHILD; CLINICAL ARTICLE; COHORT ANALYSIS; CONGENITAL DISORDER; CONTROLLED STUDY; DIMERIZATION; DNA BINDING; EXON; FEMALE; FRAMESHIFT MUTATION; GENE DELETION; GENE SEQUENCE; GENE STRUCTURE; HUMAN; INDEL MUTATION; INFANT; INTRON; MALE; MARSHALL SMITH SYNDROME; PRESCHOOL CHILD; PRIORITY JOURNAL; PROTEIN DOMAIN; SCHOOL CHILD; ABNORMALITIES, MULTIPLE; ADULT; ALU SEQUENCE; BONE DISEASES, DEVELOPMENTAL; CHROMOSOME BREAKAGE; CRANIOFACIAL ABNORMALITIES; FACIES; GENE EXPRESSION; GENE LOCUS; GENETICS; MUTATION; NUCLEOTIDE SEQUENCE; PHENOTYPE; SEPTO-OPTIC DYSPLASIA; YOUNG ADULT;

ABNORMALITIES, MULTIPLE; ADOLESCENT; ADULT; ALU ELEMENTS; BONE DISEASES, DEVELOPMENTAL; CHILD; CHILD, PRESCHOOL; CHROMOSOME BREAKPOINTS; CRANIOFACIAL ABNORMALITIES; DNA MUTATIONAL ANALYSIS; EXONS; FACIES; FEMALE; GENE EXPRESSION; GENETIC LOCI; HUMANS; INFANT; MALE; MUTATION; NFI TRANSCRIPTION FACTORS; PHENOTYPE; RNA, MESSENGER; SEPTO-OPTIC DYSPLASIA; SEQUENCE DELETION; YOUNG ADULT;

EID: 84906053890     PISSN: 10597794     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.22603     Document Type: Article

References (27)

1. Batzer MA, Deininger PL. 2002. Alu repeats and human genomic diversity. Nat Rev Genet 3:370-379.
2. Boone PM, Liu P, Zhang F, Carvalho CM, Towne CF, Batish SD, Lupski JR. 2011. Alu-specific microhomology-mediated deletion of the final exon of SPAST in three unrelated subjects with hereditary spastic paraplegia. Genet Med 13:582-592.
3. Cooper DN, Bacolla A, Ferec C, Vasquez KM, Kehrer-Sawatzki H, Chen JM. 2011. On the sequence-directed nature of human gene mutation: the role of genomic architecture and the local DNA sequence environment in mediating gene mutations underlying human inherited disease. Hum Mutat 32:1075-1099.
4. Deininger PL, Batzer MA. 1999. Alu repeats and human disease. Mol Genet Metab 67:183-193.
5. Dekker J, van Oosterhout JA, van der Vliet PC. 1996. Two regions within the DNA binding domain of nuclear factor I interact with DNA and stimulate adenovirus DNA replication independently. Mol Cell Biol 16:4073-4080.
6. Franke G, Bausch B, Hoffmann MM, Cybulla M, Wilhelm C, Kohlhase J, Scherer G, Neumann HP. 2009. Alu-Alu recombination underlies the vast majority of large VHL germline deletions: Molecular characterization and genotype-phenotype correlations in VHL patients. Hum Mutat 30:776-786.
7. Gounari F, De Francesco R, Schmitt J, van der Vliet P, Cortese R, Stunnenberg H. 1990. Amino-terminal domain of NF1 binds to DNA as a dimer and activates adenovirus DNA replication. EMBO J 9:559-566.
8. Gronostajski RM. 2000. Roles of the NFI/CTF gene family in transcription and development. Gene 249:31-45.
9. Gronostajski RM, Adhya S, Nagata K, Guggenheimer RA, Hurwitz J. 1985. Site-specific DNA binding of nuclear factor I: analyses of cellular binding sites. Mol Cell Biol 5:964-971.
10. Hanna-Rose W, Hansen U. 1996. Active repression mechanisms of eukaryotic transcription repressors. Trends Genet 12:229-234.
11. Hastings PJ, Lupski JR, Rosenberg SM, Ira G. 2009. Mechanisms of change in gene copy number. Nat Rev Genet 10:551-564.
12. Li L, McVety S, Younan R, Liang P, Du Sart D, Gordon PH, Hutter P, Hogervorst FB, Chong G, Foulkes WD. 2006. Distinct patterns of germ-line deletions in MLH1 and MSH2: the implication of Alu repetitive element in the genetic etiology of Lynch syndrome (HNPCC). Hum Mutat 27:388.
13. Malan V, Rajan D, Thomas S, Shaw AC, Louis Dit Picard H, Layet V, Till M, van Haeringen A, Mortier G, Nampoothiri S, Puseljic S, Legeai-Mallet L, et al. 2010. Distinct effects of allelic NFIX mutations on nonsense-mediated mRNA decay engender either a Sotos-like or a Marshall-Smith syndrome. Am J Hum Genet 87:189-198.
14. Manley JL, Um M, Li C, Ashali H. 1996. Mechanisms of transcriptional activation and repression can both involve TFIID. Philos Trans R Soc Lond B Biol Sci 351:517-526.
15. Marshall RE, Graham CB, Scott CR, Smith DW. 1971. Syndrome of accelerated skeletal maturation and relative failure to thrive: a newly recognized clinical growth disorder. J Pediatr 78:95-101.
16. Martinez E, Dusserre Y, Wahli W, Mermod N. 1991. Synergistic transcriptional activation by CTF/NF-I and the estrogen receptor involves stabilized interactions with a limiting target factor. Mol Cell Biol 11:2937-2945.
17. Mazoyer S. 2005. Genomic rearrangements in the BRCA1 and BRCA2 genes. Hum Mutat 25:415-422.
18. Mermod N, O'Neill EA, Kelly TJ, Tjian R. 1989. The proline-rich transcriptional activator of CTF/NF-I is distinct from the replication and DNA binding domain. Cell 58:741-753.
19. Pazin MJ, Kadonaga JT. 1997. What's up and down with histone deacetylation and transcription? Cell 89:325-328.
20. Priolo M, Grosso E, Mammi C, Labate C, Naretto VG, Vacalebre C, Caridi P, Lagana C. 2012. A peculiar mutation in the DNA-binding/dimerization domain of NFIX causes Sotos-like overgrowth syndrome: a new case. Gene 511:103-105.
21. Seipel K, Georgiev O, Schaffner W. 1992. Different activation domains stimulate transcription from remote ('enhancer') and proximal ('promoter') positions. EMBO J 11:4961-4968.
22. Shaw AC, van Balkom ID, Bauer M, Cole TR, Delrue MA, Van Haeringen A, Holmberg E, Knight SJ, Mortier G, Nampoothiri S, Puseljic S, Zenker M, et al. 2010. Phenotype and natural history in Marshall-Smith syndrome. Am J Med Genet A 152A:2714-2726.
23. Sibbons C, Morris JK, Crolla JA, Jacobs PA, Thomas NS. 2012. De novo deletions and duplications detected by array CGH: a study of parental origin in relation to mechanisms of formation and size of imbalance. Eur J Hum Genet 20:155-160.
24. Thomas NS, Durkie M, Van Zyl B, Sanford R, Potts G, Youings S, Dennis N, Jacobs P. 2006. Parental and chromosomal origin of unbalanced de novo structural chromosome abnormalities in man. Hum Genet 119:444-450.
25. Vissers LE, Bhatt SS, Janssen IM, Xia Z, Lalani SR, Pfundt R, Derwinska K, de Vries BB, Gilissen C, Hoischen A, Nesteruk M, Wisniowiecka-Kowalnik B, et al. 2009. Rare pathogenic microdeletions and tandem duplications are microhomology-mediated and stimulated by local genomic architecture. Hum Mol Genet 18:3579-3593.
26. Yoneda Y, Saitsu H, Touyama M, Makita Y, Miyamoto A, Hamada K, Kurotaki N, Tomita H, Nishiyama K, Tsurusaki Y, Doi H, Miyake N, et al. 2012. Missense mutations in the DNA-binding/dimerization domain of NFIX cause Sotos-like features. J Hum Genet 57:207-211.
27. Zhang F, Gu W, Hurles ME, Lupski JR. 2009. Copy number variation in human health, disease, and evolution. Annu Rev Genomics Hum Genet 10:451-481.