Disruption of EXOC6B in a patient with developmental delay, epilepsy, and a de novo balanced t(2;8) translocation

European Journal of Human Genetics

Volumn 21, Issue 10, 2013, Pages 1177-1180

  Frühmesser, Anne ^a   Blake, Jonathon ^b   Haberlandt, Edda ^a   Baying, Bianka ^b   Raeder, Benjamin ^b   Runz, Heiko ^c   Spreiz, Ana ^a   Fauth, Christine ^a   Benes, Vladimir ^b   Utermann, Gerd ^a   Zschocke, Johannes ^a   Kotzot, Dieter ^a  

^a INNSBRUCK MEDICAL UNIVERSITY   (Austria)

^b EUROPEAN MOLECULAR BIOLOGY LABORATORY   (Germany)

^c UNIVERSITY OF HEIDELBERG   (Germany)

Author keywords

balanced translocation; gene disruption; next generation sequencing

Indexed keywords

CLOBAZAM; ETHOSUXIMIDE; LAMOTRIGINE; PHENOBARBITAL; VALPROIC ACID; VIGABATRIN;

ADULT; ANTICONVULSANT THERAPY; ARTICLE; AUTISM; BEHAVIOR DISORDER; BODY DYSMORPHIC DISORDER; CASE REPORT; CHROMOSOME 2P; CHROMOSOME 8; CHROMOSOME TRANSLOCATION; DEVELOPMENTAL DELAY; DEVELOPMENTAL DISORDER; ELECTROENCEPHALOGRAPHY; EPILEPSY; EPILEPTIC DISCHARGE; FINGER; GENE DISRUPTION; GENE EXPRESSION; GESTATIONAL AGE; HAPLOTYPE; HEAD CIRCUMFERENCE; HUMAN; HYPSARRHYTHMIA; INFANTILE SPASM; INTELLECTUAL IMPAIRMENT; INTRON; KARYOTYPING; LYMPHOCYTE; MALE; MOTOR DYSFUNCTION; ORAL BIOPSY; PHENOTYPE; PRIORITY JOURNAL; SEQUENCE HOMOLOGY; SPEECH DISORDER; STRABISMUS; TONIC SEIZURE;

ABNORMALITIES, MULTIPLE; CHROMOSOME BREAKPOINTS; CHROMOSOMES, HUMAN, PAIR 2; CHROMOSOMES, HUMAN, PAIR 8; DEVELOPMENTAL DISABILITIES; EPILEPSY; FEMALE; GTP-BINDING PROTEINS; HUMANS; LYMPHOCYTES; MOUTH MUCOSA; SYNDROME; TRANSLOCATION, GENETIC; YOUNG ADULT;

EID: 84884593850     PISSN: 10184813     EISSN: 14765438     Source Type: Journal    
DOI: 10.1038/ejhg.2013.18     Document Type: Article

References (15)

1. Gardner RJM, Sutherland GR, Shaffer LG: Chromosome Abnormalities and Genetic Counseling. Oxford University Press, 2012
2. Gonzalez-Gonzalez C, Garcia-Hoyos M, Hernaez Calzon R et al: Microdeletion found by array-CGH in girl with Blepharophimosis syndrome and apparently balanced translocation t(3;15)(q23;q25). Ophthalmic Genet 2011; 33: 107-110
3. Backx L, Seuntjens E, Devriendt K, Vermeesch J, Van Esch H: A balanced translocation t(6;14)(q25.3;q13.2) leading to reciprocal fusion transcripts in a patient with intellectual disability and agenesis of corpus callosum. Cytogenet Genome Res 2011; 132: 135-143
4. De Marco P, Raso A, Beri S et al: A de novo balanced translocation t(7;12)(p21.2;p12.3) in a patient with Saethre-Chotzen-like phenotype downregulates TWIST and an osteoclastic protein-tyrosine phosphatase, PTP-oc. Eur J Med Genet 2011; 54: E478-e483
5. Höckner M, Spreiz A, Frühmesser AO et al: Parental origin of de novo cytogenetically balanced reciprocal non-robertsonian translocations. Cytogenet Genome Res 2012; 136: 242-245
6. Kurosawa K, Tanoshima-Takei M, Yamamoto T et al: Sirenomelia with a de novo balanced translocation 46,X,t(X;16)(p11.23;p12.3). Congenit Anom (Kyoto) 2012; 52: 106-110
7. TerBush DR, Maurice T, Roth D, Novick P: The Exocyst is a multiprotein complex required for exocytosis in Saccharomyces cerevisiae. EMBO J 1996; 15: 6483-6494
8. He B, Guo W: The exocyst complex in polarized exocytosis. Curr Opin Cell Biol 2009; 21: 537-542
9. Brymora A, Valova VA, Larsen MR, Roufogalis BD, Robinson PJ: The brain exocyst complex interacts with RalA in a GTP-dependent manner: Identification of a novel mammalian Sec3 gene and a second Sec15 gene. J Biol Chem 2001; 276: 29792-29797
10. Zhang XM, Ellis S, Sriratana A, Mitchell CA, Rowe T: Sec15 is an effector for the Rab11 GTPase in mammalian cells. J Biol Chem 2004; 279: 43027-43034
11. Wu S, Mehta SQ, Pichaud F, Bellen HJ, Quiocho FA: Sec15 interacts with Rab11 via a novel domain and affects Rab11 localization in vivo. Nat Struct Mol Biol 2005; 12: 879-885
12. Borsani G, Piovani G, Zoppi N et al: Cytogenetic and molecular characterization of a de-novo t(2p;7p) translocation involving TNS3 and EXOC6B genes in a boy with a complex syndromic phenotype. Eur J Med Genet 2008; 51: 292-302
13. Lim JE, Jin O, Bennett C et al: A mutation in Sec15l1 causes anemia in hemoglobin deficit (hbd) mice. Nat Genet 2005; 37: 1270-1273
14. Mehta SQ, Hiesinger PR, Beronja S et al: Mutations in Drosophila sec15 reveal a function in neuronal targeting for a subset of exocyst components. Neuron 2005; 46: 219-232
15. Laue K, Pogoda HM, Daniel PB et al: Craniosynostosis and multiple skeletal anomalies in humans and zebrafish result from a defect in the localized degradation of retinoic acid. Am J Hum Genet 2011; 89: 595-606