Deletion 16p13.11 uncovers NDE1 mutations on the non-deleted homolog and extends the spectrum of severe microcephaly to include fetal brain disruption

American Journal of Medical Genetics, Part A

Volumn 161, Issue 7, 2013, Pages 1523-1530

  Paciorkowski, Alex R ^a   Keppler Noreuil, Kim ^b   Robinson, Luther ^c   Sullivan, Christopher ^d   Sajan, Samin ^d   Christian, Susan L ^d   Bukshpun, Polina ^e   Gabriel, Stacy B ^f   Gleeson, Joseph G ^g   Sherr, Elliott H ^e   Dobyns, William B ^d,h  

^a UNIVERSITY OF ROCHESTER MEDICAL CENTER   (United States)

^b UNIVERSITY OF IOWA CHILDREN S HOSPITAL   (United States)

^c UNIVERSITY AT BUFFALO   (United States)

^d SEATTLE CHILDREN S RESEARCH INSTITUTE   (United States)

^e UNIVERSITY OF CALIFORNIA   (United States)

^f BROAD INSTITUTE OF MIT AND HARVARD   (United States)

^g UNIVERSITY OF CALIFORNIA   (United States)

^h UNIVERSITY OF WASHINGTON   (United States)

Author keywords

Agenesis of the corpus callosum; Deletion 16p13.11; Fetal brain disruption; Microcephaly; NDE1; Whole exome sequencing

Indexed keywords

LANSOPRAZOLE; PHENOBARBITAL;

ARTICLE; BERNARD SOULIER DISEASE; BRAIN DEVELOPMENT; BRAIN DISEASE; CHROMOSOME 6P; CHROMOSOME DELETION; CLINICAL ARTICLE; CORPUS CALLOSUM AGENESIS; DISEASE SEVERITY; EXOME; FEMALE; FETAL BRAIN DISRUPTION; FRAMESHIFT MUTATION; GASTROESOPHAGEAL REFLUX; GENE; GENE FUNCTION; GENE MUTATION; GENE SEQUENCE; HEAD CIRCUMFERENCE; HUMAN; IMAGE ANALYSIS; MALE; MICROCEPHALY; NDE1 GENE; NONSENSE MUTATION; NUCLEOTIDE SEQUENCE; PHENOTYPE; PRIORITY JOURNAL; SEIZURE;

ADOLESCENT; BRAIN DISEASES; CHROMOSOME DELETION; CHROMOSOMES, HUMAN, PAIR 16; CORPUS CALLOSUM; FETAL DISEASES; FRAMESHIFT MUTATION; HUMANS; INFANT; MICROCEPHALY; MICROTUBULE-ASSOCIATED PROTEINS; MUTATION; PHENOTYPE; SEGMENTAL DUPLICATIONS, GENOMIC;

EID: 84879464555     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.35969     Document Type: Article

References (27)

1. Al-Dosari MS, Shaheen R, Colak D, Alkuraya FS. 2010. Novel CENPJ mutation causes Seckel syndrome. J Med Genet 47:411-414.
2. Alexander IE, Tauro GP, Bankier A. 1995. Fetal brain disruption sequence in sisters. Eur J Pediatr 154:654-657.
3. Alkuraya FS, Cai X, Emery C, Mochida GH, Al-Dosari MS, Felie JM, Hill RS, Barry BJ, Partlow JN, Gascon GG, Kentab A, Jan M, Shaheen R, Feng Y, Walsh CA. 2011. Human mutations in NDE1 cause extreme microcephaly with lissencephaly [corrected]. Am J Hum Genet 88:536-547.
4. Bakircioglu M, Carvalho OP, Khurshid M, Cox JJ, Tuysuz B, Barak T, Yilmaz S, Caglayan O, Dincer A, Nicholas AK, Quarrell O, Springell K, Karbani C, Malik S, Gannon C, Sheridan E, Crosler M, Lisgo SN, Lindsay S, Bilguvar K, Gergely F, Gunel M, Woods CG. 2011. The essential role of centrosomal NDE1 in human cerebral cortex neurogenesis. Am J Hum Genet 88:523-535.
5. Bilgüvar K, Oztürk AK, Louvi A, Kwan KY, Choi M, Tatli B, Yalnizoǧlu D, Tüysüz B, Caǧlayan AO, Gökben S, Kaymakcalan H, Barak T, Bakircioglu M, Yasuno K, Ho W, Sanders S, Zhu Y, Yilmaz S, Dincer A, Johnson MH, Bronen RA, Kocer N, Per H, Mane S, Pamir MN, Yalcinkaya C, Kumandas S, Topcu M, Ozmen M, Sestan N, Lifton RP, State MW, Gunel M. 2010. Whole-exome sequencing identifies recessive WDR62 mutations in severe brain malformations. Nature 467:207-210.
6. Bönnemann CG, Meinecke P. 1990. Fetal brain disruption sequence: A milder variant. J Med Genet 27:273-274.
7. Budarf ML, Konkle BA, Ludlow LB, Michaud D, Li M, Yamashiro DJ, McDonald-McGinn D, Zackai EH, Driscoll DA. 1995. Identification of a patient with Bernard-Soulier syndrome and a deletion in the DiGeorge/velo-cardio-facial chromosomal region in 22q11.2. Hum. Mol Genet 4:763-766.
8. de Kovel CGF, Trucks H, Helbig I, Mefford HC, Baker C, Leu C, Kluck C, Muhle H, Von Spiczak S, Ostertag P, Obermeier T, Kleefuss-Lie AA, Hallmann K, Steffens M, Gaus V, Klein KM, Hamer HM, Rosenow F, Briistra EH, Trenite DK, Swinkels MEM, Weber YG, Unterberger I, Zimprich F, Urak L, Feucht M, Fuchs K, Moller RS, Hjalgrim H, De Jonghe P, Suls A, Ruckert I-M, Wichmann H-E, Franke A, Schreiber S, Nurnberg P, Elger CE, Lerche H, Stephani U, Koeleman BPC, Lindhout D, Eichler EE, Sander T. 2010. Recurrent microdeletions at 15q11.2 and 16p13.11 predispose to idiopathic generalized epilepsies. Brain 133:23-32.
9. Guven A, Gunduz A, Bozoglu TM, Yalcinkaya C, Tolun A. 2012. Novel NDE1 homozygous mutation resulting in microhydranencephaly and not microlyssencephaly. Neurogenetics 13:189-194.
10. Hannes FD, Sharp AJ, Mefford HC, De Ravel T, Ruivenkamp CA, Breuning MH, Fryns J-P, Devriendt K, Van Buggenhout G, Vogels A, Stewart H, Hennekam RC, Cooper GM, Regan R, Knight SJL, Eichler EE, Vermeesch JT. 2009. Recurrent reciprocal deletions and duplications of 16p13.11: The deletion is a risk factor for MR/MCA while the duplication may be a rare benign variant. J Med Genet 46:223-232.
11. Heinzen EL, Radtke RA, Urban TJ, Cavalleri GL, Depondt C, Need AC, Walley NM, Nicoletti P, Ge D, Catarino CB, Duncan JS, Kasperavicitue D, Tate SK, Caboclo LO, Sander JW, Clayton L, Linney KN, Shianna KV, Cumbs C, Smith J, Cronin KD, Mala JM, Doherty CP, Pandolfo M, Leppert D, Middleton LT, Gibson RA, Johnson MR, Matthews PM, Hosford D, Kalviainen R, Eriksson K, Kantanen A-M, Dorn T, Hansen J, Kramer G, Steinhoff BJ, Wieser H-G, Zumsteg D, Ortega M, Wood NW, Huxley-Jones J, Mikati M, Gallentine WB, Husain AM, Buckley PG, Stallings RL, Podgoreanu MV, Delanty N, Sisodiya SM, Goldstein DB. 2010. Rare deletions at 16p13.11 predispose to a diverse spectrum of sporadic epilepsy syndromes. Am J Hum Genet 86:707-718.
12. Ingason A, Rujescu D, Cichon S, Sigurdsson E, Sigmundsson T, Pietiläinen OPH, Buizer-Voskamp JE, Strengman E, Francks C, Muglia P, Gylfason A, Gustafson O, Olanson PI, Steinberg S, Hansen T, Jakobsen KD, Rasmussen HB, Giegling I, Moller H-J, Hartmann A, Crombie C, Fraser G, Walker N, Lonnqvist J, Suvisaari J, Tuulio-Henriksson A, Bramon E, Kiemeney LA, Franke B, Murray R, Vassos E, Toulopoulou T, Muhleisen TW, Tosato S, Ruggeri M, Djurovi S, Andreassen OA, Zhang Z, Werge T, Ophoff RA, Rietschel M, Nothen MM, Petursson H, Stefansson H, Peltonen L, Collier D, Stefansson K, St Clair DM. 2011. Copy number variations of chromosome 16p13.1 region associated with schizophrenia. Mol Psychiatry 16:17-25.
13. Lascone MR, Sacchelli M, Vittorini S, Giusti S. 2001. Complex conotruncal heart defect, severe bleeding disorder and 22q11 deletion: A new case of Bernard-Soulier syndrome and of 22q11 deletion syndrome? Ital Heart J 2:475-477.
14. Livak KJ, Schmittgen TD. 2001. Analysis of relative gene expression data using real-time quantitative PCR and the 2(-Delta Delta C(T)) method. Methods 25:402-408.
15. Ludlow LB, Schick BP, Budarf ML, Driscoll DA, Zackai EH, Cohen A, Konkle BA. 1996. Identification of a mutation in a GATA binding site of the platelet glycoprotein Ibbeta promoter resulting in the Bernard-Soulier syndrome. J Biol Chem 271:22076-22080.
16. Martin J, Han C, Gordon LA, Terry A, Prabhakar S, She X, Xie G, Hellsten U, Chan YM, Altherr M. et al. 2004. The sequence and analysis of duplication-rich human chromosome 16. Nature 432:988-994.
17. Mefford HC, Muhle H, Ostertag P, Von Spiczak S, Buysse K, Baker C, Franke A, Malafosse A, Genton P, Thomas P, Gurnett CA, Schreiber S, Bassuk AC, Guipponi M, Stephant U, Helbig I, Eichler E. 2010. Genome-wide copy number variation in epilepsy: Novel susceptibility loci in idiopathic generalized and focal epilepsies. PLoS Genet 6:e1000962.
18. Moore CA, Weaver DD, Bull MJ. 1990. Fetal brain disruption sequence. J Pediatr 116:383-386.
19. Nakagawa M, Okuno M, Okamoto N, Fujino H, Kato H. 2001. Bernard-Soulier syndrome associated with 22q11.2 microdeletion. Am J Med Genet 99:286-288.
20. Ramalingam A, Zhou X-G, Fiedler SD, Brawner SJ, Joyce JM, Liu H-Y, Yu S. 2011. 16p13.11 duplication is a risk factor for a wide spectrum of neuropsychiatric disorders. J Hum Genet 56:541-544.
21. Russell LJ, Weaver DD, Bull MJ, Weinbaum M. 1984. In utero brain destruction resulting in collapse of the fetal skull, microcephaly, scalp rugae, and neurologic impairment: The fetal brain disruption sequence. Am J Med Genet 17:509-521.
22. Sahoo T, Theisen A, Rosenfeld JA, Lamb AN, Ravnan JB, Schultz RA, Torchia BS, Neill N, Casci I, Bejjani BA, Shaffer LG. 2011. Copy number variants of schizophrenia susceptibility loci are associated with a spectrum of speech and developmental delays and behavior problems. Genet Med 13:868-880.
23. Schram A, Kroes HY, Sollie K, Timmer B, Barth P, Van Essen T. 2004. Hereditary fetal brain degeneration resembling fetal brain disruption sequence in two sibships. Am J Med Genet Part A 127A:172-182.
24. Ullmann R, Turner G, Kirchhoff M, Chen W, Tonge B, Rosenberg C, Field M, Vianna-Morgante AM, Christie L, Krepischi-Santos AC, Banna L, Brereton AV, Hill A, Bisgaard A-M, Muller I, Hultschig C, Erdogan F, Wieczorek G, Ropers HH. 2007. Array CGH identifies reciprocal 16p13.1 duplications and deletions that predispose to autism and/or mental retardation. Hum Mutat 28:674-682.
25. Wang K, Li M, Hadley D, Liu R, Glessner J, Grant SFA, Hakonarson H, Bucan M. 2007. PennCNV: An integrated hidden Markov model designed for high-resolution copy number variation detection in whole-genome SNP genotyping data. Genome Res 17:1665-1674.
26. Williams NM, Zaharieva I, Martin A, Langley K, Mantripragada K, Fossdal R, Stefansson H, Stefansson K, Magnusson P, Gudmundsson OO, Gustafsson O, Holmans P, Owen MJ, O'Donovan M, Thapar A. 2010. Rare chromosomal deletions and duplications in attention-deficit hyperactivity disorder: A genome-wide analysis. Lancet 376:1401-1408.
27. Yu TW, Mochida GH, Tischfield DJ, Sgaier SK, Flores-Sarnat L, Sergi CM, Topçu M, McDonald MT, Barry BJ, Felie JM, Sunu C, Dobyns WB, Folkerth RD, Barkovich AJ, Walsh CA. 2010. Mutations in WDR62, encoding a centrosome-associated protein, cause microcephaly with simplified gyri and abnormal cortical architecture. Nat Genet 42:1015-1020.