The proximal chromosome 14q microdeletion syndrome: Delineation of the phenotype using high resolution SNP oligonucleotide microarray analysis (SOMA) and review of the literature

American Journal of Medical Genetics, Part A

Volumn 155, Issue 8, 2011, Pages 1884-1896

  Torgyekes, Edina ^a   Shanske, Alan L ^b   Anyane Yeboa, Kwame ^a   Nahum, Odelia ^a   Pirzadeh, Sara ^a   Blumfield, Einat ^b   Jobanputra, Vaidehi ^a   Warburton, Dorothy ^a   Levy, Brynn ^a  

^a College of Physicians and Surgeons of Columbia University ^*  (United States)

^b ALBERT EINSTEIN COLLEGE OF MEDICINE   (United States)

Author keywords

Chromosome 14 deletions; Corpus callosum agenesis; Developmental disorders; Microarray analysis; Microcephaly

Indexed keywords

APNEA; ARTICLE; BLINDNESS; BRAIN RADIOGRAPHY; CASE REPORT; CHILD; CHROMOSOME ANALYSIS; CHROMOSOME DELETION; CHROMOSOME DELETION 14Q; CHROMOSOME DUPLICATION; CHROMOSOME TRANSLOCATION 11; CHROMOSOME TRANSLOCATION 14; CHROMOSOME TRANSLOCATION 4; CORPUS CALLOSUM AGENESIS; DEVELOPMENTAL DISORDER; DISEASE SEVERITY; ELECTROENCEPHALOGRAM; FACE DYSMORPHIA; FAILURE TO THRIVE; FEMALE; GASTROENTERITIS; HEARING IMPAIRMENT; HUMAN; INTERSTITIAL LUNG DISEASE; KARYOTYPE; MALE; MICROARRAY ANALYSIS; MICROCEPHALY; NUCLEAR MAGNETIC RESONANCE IMAGING; OPISTHOTONUS; OPTIC NERVE HYPOPLASIA; PNEUMONIA; PRESCHOOL CHILD; PRIORITY JOURNAL; SEIZURE; SINGLE NUCLEOTIDE POLYMORPHISM; SINUS ARRHYTHMIA; SLEEP APNEA SYNDROME; TENDON REFLEX; THERMOREGULATION;

ABNORMALITIES, MULTIPLE; AGENESIS OF CORPUS CALLOSUM; BLINDNESS; CHILD, PRESCHOOL; CHROMOSOME DELETION; CHROMOSOMES, HUMAN, PAIR 11; CHROMOSOMES, HUMAN, PAIR 14; CHROMOSOMES, HUMAN, PAIR 4; FACE; FEMALE; GENE DELETION; GENETIC ASSOCIATION STUDIES; HUMANS; HYPERTELORISM; INTELLECTUAL DISABILITY; KARYOTYPING; OLIGONUCLEOTIDE ARRAY SEQUENCE ANALYSIS; OPTIC NERVE; PHENOTYPE; POLYMORPHISM, SINGLE NUCLEOTIDE; SYNDROME; TRANSLOCATION, GENETIC;

EID: 79960560876     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.34090     Document Type: Article

References (87)

1. Agrawal PB, Greenleaf RS, Tomczak KK, Lehtokari V-L, Wallgreen-Pettersson C, Wallefeld W, Laing NG, Darras BT, Maciver SK, Dormitzer PR, Beggs AH. 2007. Nemaline myopthay with minicores caused by mutation of the CLF2 gene encoding the skeletal muscle actin-binding protein, cofilin-2. Am J Hum Genet 80:162-167.
2. Alsmadi O, Muiya P, Khalak H, Al-Saud H, Meyer BF, Al-Mohanna F, Alshahid M, Dzimiri N. 2009. Haplotypes encomapassing the KIAA0391 and PSM6 gene cluster confer a genetic link for myocardial infarction and coronary artery disease. Ann Hum Genet 73:475-483.
3. Ariani F, Hayek G, Rondinella D, Artuso R, Mencarelli MA, Spanhol-Rosetto A, Pollazzon M, Buoni S, Spiga O, Ricciardi S, Meloni I, Longo I, Mari F, Broccoli V, Zappella M, Renieri A. 2008. FOXG1 is responsible for the congenital variant of Rett Syndrome. Am J Hum Genet 83:89-93.
4. Bauman AL, Michel JJ, Henson E, Dodge-Kafka KL, Kapiloff MS. 2007. The mAKAP signalosome and cardiac myocyte hypertrophy. IUBMB Life 59:163-169.
5. Bisgaard A-M, Kirchhoff M, Tumer Z, Jepsen B, Brondum-Nielsen K, Cohen M, Hamborg-Petersen B, Bryndorf T, Tommerup N, Skovby F. 2006. Additional chromosomal abnormalities in patients with a previously detected abnormal karyotype, mental retardation, and dysmorphic features. Am J Med Gen Part A 140:2180-2187.
6. Brooks WS, Banerjee S, Crawford DF. 2007. G2E3 is a nucleo-cytoplasmic shuttling protein with DNA damage responsive localization. Exp Cell Res 15:665-676.
7. Brouns MR, Matheson SF, Hu KQ, Delalle I, Caviness VS, Silver J, Bronson RT, Settleman J. 2000. The adhesion signaling molecule p190 RhoGAP is required for morphogenetic processes in neural development. Development 127:4891-4903.
8. Brunskill EW, Witte DP, Shreiner AB, Potter SS. 1999. Characterization of Npas3, a novel basic helix-loop-helix PAS gene expressed in the developing mouse nervous system. Mech Development 88:237-241.
9. Bruyere H, Favre B, Douvier S, Nivelon-Chevlier A, Mugneret F. 1996. De novo interstitial proximal deletion of 14q and prenatal diagnosis of holoprosencephaly. Prenat Diagn 16:1059-1060.
10. Butt SJ, Sousa VH, Fuccillo MV, Hjerling-Leffler J, Miyoshi G, Kimura S, Fishell G. 2008. The requirement of Nkx2-1 in the temporal specification of cortical interneuron subtypes. Neuron 11:722-732.
11. Cai D, Frantz JD, Tawa NE Jr, Melendez PA, Oh B-C, Lidov HGW, Hasselgren PO, Frontera WR, Lee J, Glass DJ, Shoelson SE. 2004. IKK-beta/NF-kappa-B activation causes severe muscle wasting in mice. Cell 119:285-298.
12. Carré A, Szinnai G, Mireille C, Sura-Trueba S, Tron E, Broutin-L'Hermite I, Barat P, Goizet C, Lacombe D, Moutard M-L, Raybaud C, Raynaud-Ravni C, Romana S, Ythier H, Léger J, Polak M. 2009. Five new TTF1/NKX2.1 mutations in brain-lung-thyroid syndrome: Rescue by PAX8 synergism in one case. Hum Mol Genet 18:2266-2276.
13. Chen CP, Lee CC, Chen LF, Chuang CY, Jan SW, Chen BF. 1997. Prenatal diagnosis of de novo proximal interstitial deletion of 14q associated with cebocephaly. J Med Genet 34:777-778.
14. Chen CP, Chern SR, Lee CC, Chen WL, Chen MH, Chang KM. 1998. De novo unbalanced translocation resulting in monosomy for proximal 14q and distal 4p in a fetus with intrauterine growth retardation, Wolf-Hirschhorn syndrome, hypertrophic cardiomyopathy, and partial hemihypoplasia. J Med Genet 35:1050-1053.
15. Conrad DF, Hurles FE. 2007. The population genetics of structural variation. Nat Gen 39:S30-S36.
16. Courtois G, Smahi A, Reichenbach J, Doffinger R, Cancrini C, Bonnet M, Puel A, Chable-Bessia C, Yamaoka S, Feinberg J, Dupuis-Girod S, Bodemer C, Livadiotti S, Novelli F, Rossi P, Fisher A, Isreal A, Munnich A, Le Deist F, Casanova J-L. 2003. A hypermorphic IkappaBalpha mutation is associated with autosomal dominant anhidrotic ectodermal dysplasia and T cell immunodeficiency. J Clin Invest 112:1108-1115.
17. Dajee M, Lazarov M, Zhang JY, Cai T, Green CL, Russell AJ, Marinkovich MP, Tao S, Lin Q, Kubo Y, Khavari PA. 2003. NF-kappa-B blockade and oncogenic Ras trigger invasive human epidermal neoplasia. Nature 421:639-643.
18. Dell'Angelica EC, Mullins C, Bonifacino JS. 1999. AP-4, a novel protein complex related to clathrin adaptors. J Biol Chem 274:7278-7285.
19. DeScipio C, Spinner NB, Kaur M, Yaeger D, Conlin LK, Ambrosini A, Hu S, Shan S, Krantz ID, Riethman H. 2008. Fine-mapping subtelomeric deletions and duplications by comparative genomic hybridization in 42 individuals. Am J Med Gen Part A 146A:730-739.
20. Devriendt K, Vanhole C, Matthijs G, de Zegher F. 1998. Deletion of Thyroid Transcription Factor-1 gene in an infant with neonatal thyroid dysfunction and respiratory failure. NEJM 338:1317-1318.
21. Ewing AK, Attner M, Chakravarti D. 2007. Novel regulatory role for human Acf1 in transcriptional repression of vitamin D3 receptor-regulated genes. Mol Endocrinol 21:1791-1806.
22. Fiermonte G, Dolce V, Palmieri L, Ventura M, Runswick MJ, Palmieri F, Walker JE. 2001. Identification of the human mitochondrial oxodicarboxylate carrier. Bacterial expression, reconstitution, functional characterization, tissue distribution, and chromosomal location. J Biol Chem 276:8225-8230.
23. Firth HV, Richards SM, Bevan P, Clayton S, Corpas M, Rajan D, Van Vooren S, Moreau Y, Pettett RM, Carter NP. 2009. DECIPHER: Database of chromosomal imbalance and phenotype in humans using ensembl resources. Am J Hum Genet 84:524-533.
24. Fransen E, Versreken M, Verhagen WIM, Wuyts FL, Huygen PLM, D'Haese P, Robertson NG, Morton CC, MsGuirt WT, Smith RJH, Declau F, Van de Heyning PH, Van Camp G. 1999. High prevalence of symptoms of Meniere's disease in three families with a mutation in the COCH gene. Hum Mol Gen 8:1425-1429.
25. Freeman RS, Hasbani DM, Lipscomb EA, Straub JA, Xie L. 2003. SM-20, EGL-9, and the EGLN family of hypoxia-inducible factor prolyl hydroxylases. Mol Cell 16:1-12.
26. Fu J, Menzies K, Freeman RS, Taubman MB. 2007. EGLN3 prolyl hydroxylase regulates skeletal muscle differentiation and myogenin protein stability. J Biol Chem 282:12410-12418.
27. Fukuyama K, Yoshida M, Yamashita A, Deyama T, Baba M, Suzuki A, Mohri H, Ikezawa Z, Nakajima H, Hirai S, Ohno S. 2000. MAPK upstream kinase (MUK)-binding inhibitory protein, a negative regulator of MUK/dual leucine zipper-bearing kinase/leucin zipper protein kinase. J Biol Chem 275:21247-21254.
28. Govaerts L, Toorman J, Blij-Philipsen MVD, Smeets D. 1996. Another patient with a deletion 14q11.2q13. Ann Genet 39:197-200.
29. Grammatico P, de Sanctis S, di Rosa C, Cuplari F, del Porto G. 1994. First case of deletion 14q11.2q13: Clinical phenotype. Ann Genet 37:30-32.
30. Grudnik P, Bange G, Sinning I. 2009. Protein targeting by the signal recognition particle. Biol Chem 390:775-782.
31. Hanashima C, Shen L, Li SC, Lai E. 2002. Brain Factor-1 controls the proliferation and differentiation of neocortical progenitor cells through independent mechanism. J Neurosci 22:6526-6536.
32. Hirst J, Bright NA, Rous B, Robinson MS. 1999. Characterization of a fourth adaptor-related protein complex. Mol Biol Cell 10:2787-2802.
33. Iwatani N, Mabe H, Devriendt K, Kodama M, Miike T. 2000. Deletion of NKX2.1 gene encoding thyroid transcription factor-1 in two siblings with hypothyroidism and respiratory failure. J Pediatrics 137:272-276.
34. Johannes FJ, Prestle J, Eis S, Oberhagemann P, Pfizenmaier K. 1994. PKCu is a novel, atypical member of the protein kinase C family. J Biol Chem 269:6140-6148.
35. Kamnasaran D, OBrian PCM, Schuffenauer S, Quarell O, Lupski JR, Grammatico P, Ferguson-Smith MA, Cox DW. 2001. Defining the breakpoints of proximal chromosome 14q rearrangements in nine patients using flow-sorted chromosomes. Am J Med Gen 102:173-182.
36. Kamnasaran D, Muir WJ, Ferguson-Smith MA, Cox DW. 2003. Disruption of the neuronal PAS3 gene in a family affected with schizophrenia. J Med Genet 40:325-332.
37. Kamnasaran D, Chen C-P, Devriendt K, Mehta L, Cox DW. 2005. Defining a holoprosencephaly locus on human chromosome 14q13 and characterization of potential candidate genes. Genomics 85:608-621.
38. Kapiloff MS, Schillace RV, Westphal AM, Scott JD. 1999. mAKAP: An A-kinase anchoring protein targeted to the nuclear membrane of differentiated myocytes. J Cell Sci 112:725-2736.
39. Kendall J, Liu Q, Bakleh A, Krasnitz A, Nguyen KC, Lakshmi B, Gerald WL, Powers S, Mu D. 2007. Oncogenic cooperation and coamplification of developmental transcription factor genes in lung cancer. Proc Natl Acad Sci USA 104:16663-16668.
40. Ko HY, Lee DS, Kim S. 2009. Noninvasive imaging of microRNA124a-mediated repression of the chromosome 14 ORF 24 gene during neurogenesis. FEBS J 267:4854-4865.
41. Kodama M, Kai Y, Sugino S, Inokuchi N, Miike T. 1990. Two siblings with interstitial deletion of chromosome 14 [46 XX, del (14) (q12q13.3)]. No To Hattatsu 22:61-65.
42. Kondoh S, Sugawara H, Harada N, Matsumoto N, Ohashi H, Sato M, Kantaputra PN, Ogino T, Tomita H, Ohta T, Kishino T, Fukushima Y, Niikawa N, Yoshiura K. 2002. A novel gene is disrupted at a 14q13 breakpoint of t(2;14) in a patient with mirror-image polydactyly of hands and feet. J Hum Genet 47:136-139.
43. Krude H, Schutz B, Biebermann H, von Moers A, Schnabel D, Neitzel H, Tonnies H, Weise D, Lafferty A, Schwarz S, DeFelice M, von Deimling A, van Landghem F, DiLauro R, Gruters A. Choreoathetosis, hypothyroidism, and pulmonary alterations due to human NKX2-1. 2002. J Clin Invest 109:451-455.
44. Lee S, Nakamura E, Yang H, Wei W, Linggi MS, Sajan MP, Farese RV, Freeman RS, Carter BD, Kaelin WG Jr, Schlisio S. 2005. Neuronal apoptosis linked to EglN3 prolyl hydroxylase and familial pheochromocytoma genes: Developmental culling and cancer. Cancer Cell 8:155-167.
45. Levin SW, Surana RB. 1991. Holoprosencephaly associated with 46, XX, del(14)(q11.1q13). Am J Hum Gen 49:269.
46. Li Z, White P, Tuteja G, Rubins N, Sackett S, Kaestner KH. 2009. Foxa1 and Foxa2 regulate bile duct development in mice. J Clin Invest 119:1537-1545.
47. Liljedhl M, Maeda Y, Colanzi A, Ayala I, Van Lint J, Malhotra V. 2001. Protein Kinase D regulates the fission of cell surface destined transport carriers fro the trans-Golgi network. Cell 104:409-420.
48. Lin W, Metzakopian E, Mavromatakis YE, Gao N, Balaskas N, Sasaki H, Briscoe J, Whittsett JA, Goulding M, Kaestner KH, Ang SL. 2009. Foxa1 and Foxa2 function both upstream of and cooperatively with Lmx1a and Lmx1b in a feedforward loop promoting mesodiencephalic dopaminergic neuron development. Dev Biol 333:386-396.
49. Lindsey SJ, Khajavi M, Lupski JR, Hurles ME. 2006. A chromosomal rearrangement hotspot can be identified from population genetic variation and is coincident with a hotspot for allelic recombination. AJHG 79:890-902.
50. Lupski JR, Stankiewicz P. 2005. Genomic disorders: Molecular mechanisms for rearrangements and conveyed phenotypes. PLOS Genetics 1:e49.
51. Makishima T, Rodriguez CI, Robertson NG, Morton CC, Stewart CL, Griffith AJ. 2005. Targeted disruption of mouse Coch provides functional evidence that DFNA9 hearing loss is not a COCH haploinsufficiency disorder. Hum Genet 118:29-34.
52. McCartney S, Little BM, Langeberg LK, Scott JD. 1995. Cloning and characterization of A-kinase anchor protein 100 (AKAP100): A protein that targets A-kinase to the sarcoplasmic reticulum. J Biol Chem 270:9327-9333.
53. McDonald DR, Mooster JL, Reddy M, Bawle E, Secord E, Geha RS. 2007. Heterozygous N-terminal deletion of I-kappa-B-alpha results in functional nuclear factor kappa-B haploinsufficiency, ectodermal dysplasia, and immune deficiency. J Allergy Clin Immun 120:900-907.
54. Mehta L, Cervantes C, Small K, Yenamandra A, Koduru P. 1999. Proximal deletion of chromosome 14q. Am J Hum Gen 65:A351.
55. Mencarelli MA, Kleefstra T, Katzaki E, Papa FT, Cohen M, Pfundt R, Ariani F, Meloni I, Mari F, Renieri A. 2009. 14q12 microdeletion syndrome and congenital variant of Rett syndrome. Eur J Med Genet 52:148-152.
56. Nóbrega-Pereira S, Kessaris N, Du T, Kimura S, Anderson SA, Marín O. 2008. Postmitotic Nkx2-1 controls the migration of telencephalic interneurons by direct repression of guidance receptors. Neuron 11:733-745.
57. Novy M, Pohn R, Andorfer P, Novy-Weiland T, Galos B, Schwarzmayr L, Rotheneder H. 2005. EAPP, a novel E2F binding protein that modulates E2F-dependent transcription. Mol Cell Biol 16:2181-2190.
58. Pabst O, Herbrand H, Arnold HH. 1998. Nkx2-9 is a novel homeobox transcription factor which demarcates ventral domains in the developing mouse CNS. Mech Dev 73:85-93.
59. Papa FT, Mencarelli MA, Caselli R, Katzaki E, Sampieri K, Meloni I, Ariani F, Longo I, Maggio A, Balestri P, Grosso S, Farnetani MA, Berardi R, Mari F, Renieri A. 2008. A 3Mb deletion in 14q12 causes severe mental retardation, mild facial dysmorphism and Rett-like features. Am J Med Genet Part A 146A:1994-1998.
60. Petek E, Plecko-Startinig B, Windpassinger C, Egger H, Wagner K, Kroisel PM. 2003. Molecular characterization of a 3.5Mb interstitial 14q deletion in a child with several phenotypic anomalies. J Med Genet 40:e47.
61. Picciani R, Desai K, Guduric-Fuchs J, Cogliati T, Morton CC, Bhattacharya SK. 2007. Cochlin in the eye: Functional implications. Prog Retin Eye Res 26:453-469.
62. Pieper AA, Wu X, Han TW, Estill SJ, Dang Q, Wu LC, Reece-Fincanon S, Dudley CA, Richardson JA, Brat DJ, McKnight SL. 2005. The neuronal PAS domain protein 3 transcription factor controls FGF-mediated adult hippocampal neurogenesis in mice. PNAS 102:14052-14057.
63. Ramelli GP, Remonda L, Lovblad KO, Hirsiger H, Moser H. 2000. Abnormal myelination in a patient with deletion 14q11.2q13.1. Pediatr Neurol 23:170-172.
64. Reecy JM, Yamada M, Cummings K, Sosic D, Chen CY, Eichele G, Olson EN, Schwartz RJ. 1997. Chicken Nkx-2.8: A novel homeobox gene expressed in early heart progenitor cells and pharyngeal pouch-2 and -3 endoderm. Dev Biol 188:295-311.
65. Robertson NG, Lu L, Heller S, Merchant SN, Eavey RD, McKenna M, Nadol JB, Miyamoto RT, Linthicum FH, Lubianca Neto JF, Hudspeth AJ, Seidman CE, Morton CC, Seidman JG. 1998. Mutations in a novel cochlear gene cause DFNA9, a human nonsyndromic sensorineural deafness with vestibular dysfunction. Nat Genet 20:299-303.
66. Sanghamitra M, Talukder I, Singarapu N, Sindhu KV, Kateriya S, Goswami SK. 2008. WD-40 repeat protein SG2NA has multile splice variants with tissue restricted and growth responsive properties. Science 420:48-56.
67. Schneider A, Benzacken B, Guichet A, Verloes A, Bonneau D, Collot N, Dastot-Le-Moal F, Goossens M, Taine L, Landais E, Gaillard D, Doco-Fenzy M. 2008. Molecular cytogenetic characterization of terminal 14q32 deletions in two children with an abnormal phenotype and corpus callosum hypoplasia. Eur J Hum Genet 16:680-687.
68. Schuffenauer S, Leifheit H-J, Lichtner P, Peters H, Murken J, Emmerich P. 1999. De novo deletion (14)(q11.2q13) including PAX9: Clinical and molecular findings. J Med Genet 36:233-236.
69. Schwarzbraun T, Vincent JB, Schumacher A, Geschwind DH, Oliveira J, Windpassinger C, Ofner L, Ledinegg MK, Kroisel PM, Wagner K, Petek E. 2004. Cloning, genomic structure, and expression profiles of TULIP1 (GARNL1), a brain-expressed candidate gene for 14q13-linked neurological phenotypes, and its murine homologue. Genomics 84:577-586.
70. Segawa Y, Itokazu N, Hirose A, Nakagawa S, Takashima S. 2007. A case of partial 14q- with facial features of holoprosencephaly and hydranencephaly. Pediatr Neurol 37:51-54.
71. Shapira SK, Anderson KL, Orr-Urtregar A, Craigen WJ, Lupski JR, Schaffer LG. 1994. De novo proximal interstitial deletions of 14q: Cytogenetic and molecular investigations. Am J Med Gen 52:44-50.
72. Sharp AJ, Hansen S, Selzer RR, Cheng Z, Regan R, Hurst JA, Stewart H, Price SM, Blair E, Hennekam RC, Fitzpatrick CA, Segraves R, Richmond TA, Guiver C, Albertson DG, Pinkel D, Eis PS, Schwartz S, Knight SJL, Eichler EE. 2006. Discovery of previously unidentified genomic disorders from the duplication architecture of the human genome. Nat Genet 38:1038-1042.
73. Shimojima K, Komoike Y, Tohyama J, Takahashi S, Páez MT, Nakgawa E, Goto Y, Ohno K, Ohtsu M, Oguni H, Osawa M, Higashinakagawa T, Yamamoto T. 2009. TULIP1 (RALGAPA1) haploinsufficiency with brain development delay. Genomics 94:414-422.
74. Shoichet SA, Kunde SA, Viertel P, Schell-Apacik C, von Voss H, Tommerup N, Ropers HH, Kalscheuer VM. 2005. Haploinsufficiency of novel FOXG1B variants in a patient with severe mental retardation, brain malformations and microcephaly. Hum Genet 117:536-544.
75. Sjakste T, Trapina I, Rumba-Rosenfelde I, Lunin R, Sugoka O, Sjakste N. 2010. Identification of a novel candidate locus for juvenile idiopathic arthritis at 14q13.2 in the Latvian population by association analysis with microsatellite markers. DNA Cell Biol 29:543-551.
76. Sordella R, Jiang W, Chen GC, Curto M, Settleman J. 2003. Modulation of Rho GTPase signaling regulates a switch between adipogenesis and myogenesis. Cell 113:147-158.
77. Stockton DW, Das P, Goldenberg M, D'Souza RN, Patel PI. 2000. Mutation of PAX9 is associated with oligodontia. Nat Genet 24:18-19.
78. Su PH, Chen SJ, Lee IC, Wang KL, Chen JY, Hung HM, Lee CF. 2004. Interstitial deletion of chromosome 14q in a Taiwanese infant with microcephaly. J Formos Med Assoc 103:385-387.
79. Tian J, Mahmood R, Hnasko R, Locker J. 2006. Loss of Nkx2.8 deregulates progenitor cells in the large airways and leads to dysplasia. Cancer Res 66:10399-10407.
80. van Karnebeek CD, Quik S, Sluijter S, Hulsbeek MM, Hoovers JM, Hennekam RC. 2002. Further delineation of the chromosome 14q terminal deletion syndrome. Am J Med Genet 110:65-72.
81. Wassmer T, Attar N, Bujny MV, Oakley J, Traer CJ, Cullen PJ. 2007. A loss-of-function screen reveals SNX5 and SNX6 as potential components of the mammalian retromer. J Cell Sci 120:45-54.
82. Williams AL, Ehm S, Jacobson NC, Xu D, Hay JC. 2004. Rsly binding to syntaxin 5 is required for endoplasmic reticulum-to-Golgi transport but does not promote SNARE motif accessibility. Mol Biol Cell 15:162-175.
83. Wong W, Goehring AS, Kapiloff MS, Langeberg LK, Scott JD. 2008. mAKAP compartmentalizes oxygen-dependent control of HIF-1 alpha. Sci Signal 23:ra18.
84. Xuan S, Baptista CA, Balas G, Tao W, Soares VC, Lai E. 1995. Winged helix transcription factor BF-1 is essential for the development of cerebral the hemispheres. Neuron 14:1141-1152.
85. Zahir F, Firth HV, Baross A, Delaney AD, Eydoux P, Gibson WT, Langlois S, Martin H, Willatt L, Marra MA, Friedman JM. 2007. Novel deletions of 14q11.2 associated with developmental delay, cognitive impairment and similar minor anomalies in three children. J Med Genet 44:556-561.
86. Zajac JD, Danks JA. 2008. The development of the parathyroid gland: From fish to human. Curr Opin Nephrol Hypertens 17:353-356.
87. Zohn IE, Anderson KV, Niswander L. 2007. The hectd1 ubiquitin ligase is required for development of the head mesenchyme and neural tube closure. Dev Biol 306:208-221.