Autosomal recessive mutations in THOC6 cause intellectual disability: syndrome delineation requiring forward and reverse phenotyping

Clinical Genetics

Volumn 91, Issue 1, 2017, Pages 92-99

  Amos, J S ^a   Huang, L ^b   Thevenon, J ^c,d   Kariminedjad, A ^e   Beaulieu, C L ^b   Masurel Paulet, A ^c,d   Najmabadi, H ^e,f   Fattahi, Z ^e,f   Beheshtian, M ^e,f   Tonekaboni, S H ^g   Tang, S ^h   Helbig, K L ^h   Alcaraz, W ^h   Riviere J B ^c,d   Faivre, L ^c,d   Innes, A M ⁱ   Lebel, R R ^a   Boycott, K M ^b  

^a SUNY UPSTATE MEDICAL UNIVERSITY   (United States)

^b CHILDREN S HOSPITAL OF EASTERN ONTARIO   (Canada)

^c DIJON UNIVERSITY HOSPITAL   (France)

^d UNIVERSITÉ DE BOURGOGNE   (France)

^e Molecular Diagnostic Division Kariminejad Najmabadi Pathology and Genetics Center   (Iran)

^f UNIVERSITY OF SOCIAL WELFARE AND REHABILITATION SCIENCES   (Iran)

^g SHAHID BEHESHTI UNIVERSITY OF MEDICAL SCIENCES   (Iran)

^h AMBRY GENETICS   (United States)

ⁱ UNIVERSITY OF CALGARY   (Canada)

Author keywords

Beaulieu Boycott Innes syndrome; congenital malformations; dysmorphism; exome sequencing; intellectual disability; THO complex; THOC6

Indexed keywords

ADULT; ARTICLE; AUTOSOMAL RECESSIVE INHERITANCE; CASE REPORT; CHILD; CLINICAL FEATURE; COMPUTER MODEL; FACIES; FEMALE; GENE; GENE MUTATION; HETEROZYGOTE; HOMOZYGOTE; HUMAN; INTELLECTUAL IMPAIRMENT; MALE; MISSENSE MUTATION; PHENOTYPE; PRESCHOOL CHILD; PRIORITY JOURNAL; SCHOOL CHILD; SYNDROME DELINEATION; THOC6 GENE; WHOLE EXOME SEQUENCING; YOUNG ADULT; ADOLESCENT; CHEMISTRY; DNA SEQUENCE; EXOME; GENETIC PREDISPOSITION; GENETICS; GENOTYPE; MOLECULAR MODEL; PATHOLOGY; PROCEDURES; PROTEIN DOMAIN; RECESSIVE GENE; SEVERITY OF ILLNESS INDEX; SYNDROME;

RNA BINDING PROTEIN; THOC6 PROTEIN, HUMAN;

ADOLESCENT; CHILD; EXOME; FEMALE; GENES, RECESSIVE; GENETIC PREDISPOSITION TO DISEASE; GENOTYPE; HUMANS; INTELLECTUAL DISABILITY; MALE; MODELS, MOLECULAR; MUTATION, MISSENSE; PHENOTYPE; PROTEIN DOMAINS; RNA-BINDING PROTEINS; SEQUENCE ANALYSIS, DNA; SEVERITY OF ILLNESS INDEX; SYNDROME;

EID: 84971228949     PISSN: 00099163     EISSN: 13990004     Source Type: Journal    
DOI: 10.1111/cge.12793     Document Type: Article

References (16)

1. Wang X, Chang Y, Li Y, Zhang X, Goodrich DW. Thoc1/Hpr1/p84 is essential for early embryonic development in the mouse. Mol Cell Biol 2006: 26: 4362–4367.
2. Boycott KM, Beaulieu C, Puffenberger EG, McLeod DR, Parboosingh JS, Innes AM. A novel autosomal recessive malformation syndrome associated with developmental delay and distinctive facies maps to 16ptel in the Hutterite population. Am J Med Genet A 2010: 152A: 1349–1356.
3. Beaulieu CL, Huang L, Innes AM et al. Intellectual disability associated with a homozygous missense mutation in THOC6. Orphanet J Rare Dis 2013: 8: 62.
4. Masuda S, Das R, Cheng H, Hurt E, Dorman N, Reed R. Recruitment of the human TREX complex to mRNA during splicing. Genes Dev 2005: 19: 1512–1517.
5. Tran DDH, Saran S, Williamson AJK et al. THOC5 controls 3'end-processing of immediate early genes via interaction with polyadenylation specific factor 100 (CPSF100). Nucleic Acids Res 2014: 42: 12249–12260.
6. Cheng H, Dufu K, Lee C-S, Hsu JL, Dias A, Reed R. Human mRNA export machinery recruited to the 5' end of mRNA. Cell 2006: 127: 1389–1400.
7. Tran DDH, Koch A, Tamura T. THOC5, a member of the mRNA export complex: a novel link between mRNA export machinery and signal transduction pathways in cell proliferation and differentiation. Cell Commun Signal 2014: 12: 3.
8. Rehwinkel J, Herold A, Gari K et al. Genome-wide analysis of mRNAs regulated by the THO complex in Drosophila melanogaster. Nat Struct Mol Biol 2004: 11: 558–566.
9. Mancini A, Niemann-Seyde SC, Pankow R et al. THOC5/FMIP, an mRNA export TREX complex protein, is essential for hematopoietic primitive cell survival in vivo. BMC Biol 2010: 8: 1.
10. Kumar R, Corbett MA, van Bon BWM et al. THOC2 mutations implicate mRNA-export pathway in X-Linked intellectual disability. Am J Hum Genet 2015: 97: 302–310.
11. Di Gregorio E, Bianchi FT, Schiavi A et al. A de novo X;8 translocation creates a PTK2-THOC2 gene fusion with THOC2 expression knockdown in a patient with psychomotor retardation and congenital cerebellar hypoplasia. J Med Genet 2013: 50: 543–551.
12. Anazi S, Alshammari M, Moneis D, Abouelhoda M, Ibrahim N, Alkuraya FS. Confirming the candidacy of THOC6 in the etiology of intellectual disability. Am J Med Genet A 2016: 170: 1367–1369.
13. Smith TF, Gaitatzes C, Saxena K, Neer EJ. The WD repeat: a common architecture for diverse functions. Trends Biochem Sci 1999: 24: 181–185.
14. Bragin E, Chatzimichali EA, Wright CF et al. DECIPHER: database for the interpretation of phenotype-linked plausibly pathogenic sequence and copy-number variation. Nucleic Acids Res 2014: 42: D993–D1000.
15. Sobreira N, Schiettecatte F, Valle D, Hamosh A. GeneMatcher: a matching tool for connecting investigators with an interest in the same gene. Hum Mutat 2015: 36: 928–930.
16. Philippakis AA, Azzariti DR, Beltran S et al. The matchmaker exchange: a platform for rare disease gene discovery. Hum Mutat 2015: 36: 915–921.