CCDD Phenotype Associated with a Small Chromosome 2 Deletion

References

• Brown H. Congenital structural muscle anomalies. In: Strabismus Ophthalmic Symposium. Allen J, Ed. St. Louis: C.V. Mosby, 1950
   Google Scholar
• Duane A. Congenital deficiency of abduction, associated with impairment of adduction, retraction movements, contractions of the palpebral fissure and oblique movements of the eye. Arch Ophthal 1905;34:133–159
   Google Scholar
• Gutowski NJ. Duane's syndrome. Eur J Neurol 2000;7(2):145–149
   PubMed Web of Science ®Google Scholar
• Harley RD, Rodrigues MM, Crawford JS. Congenital fibrosis of the extraocular muscles. Trans Am Ophthalmol Soc 1978;76:197–226
   PubMedGoogle Scholar
• Gutowski NJ, Bosley TM, Engle EC. 110th ENMC International Workshop: the congenital cranial dysinnervation disorders (CCDDs). NMD 2003;13(7–8):573–578
   PubMedGoogle Scholar
• Oystreck DT, Engle EC, Bosley TM. Recent progress in understanding congenital cranial dysinnervation disorders. Journal of Neuro-ophthalmology 2011;31(1):69–77
   PubMed Web of Science ®Google Scholar
• Al-Baradie R, Yamada K, St Hilaire C, et al. Duane radial ray syndrome (Okihiro syndrome) maps to 20q13 and results from mutations in SALL4, a new member of the SAL family. Am J Hum Genet 2002;71(5):1195–1199
   PubMed Web of Science ®Google Scholar
• Kohlhase J, Heinrich M, Schubert L, et al. Okihiro syndrome is caused by SALL4 mutations. Human Molecular Genetics 2002;11(23):2979–2987
   PubMed Web of Science ®Google Scholar
• Miyake N, Chilton J, Psatha M, et al. Human CHN1 mutations hyperactivate alpha2-chimaerin and cause Duane's retraction syndrome. Science 2008;321(5890):839–843
   PubMed Web of Science ®Google Scholar
• Miyake N, Demer JL, Shaaban S, et al. Expansion of the CHN1 strabismus phenotype. Investigative Ophthalmology & Visual Science 2011;52(9):6321–6328
   PubMed Web of Science ®Google Scholar
• Tischfield MA, Bosley TM, Salih MA, et al. Homozygous HOXA1 mutations disrupt human brainstem, inner ear, cardiovascular and cognitive development. Nat Genet 2005;37(10):1035–1037
   PubMed Web of Science ®Google Scholar
• Bosley TM, Salih MA, Alorainy IA, et al. Clinical characterization of the HOXA1 syndrome BSAS variant. Neurology 2007;69(12):1245–1253
   PubMed Web of Science ®Google Scholar
• Bosley TM, Alorainy IA, Salih MA, et al. The clinical spectrum of homozygous HOXA1 mutations. Am J Med Genet A 2008;146(10):1235–1240
   Web of Science ®Google Scholar
• Doherty EJ, Macy ME, Wang SM, et al. CFEOM3: a new extraocular congenital fibrosis syndrome that maps to 16q24.2-q24.3. Invest Ophthalmol Vis Sci 1999;40(8):1687–1694
   PubMed Web of Science ®Google Scholar
• Yamada K, Chan WM, Andrews C, et al. Identification of KIF21A mutations as a rare cause of congenital fibrosis of the extraocular muscles type 3 (CFEOM3). Invest Ophthalmol Vis Sci 2004;45(7):2218–2223
   PubMed Web of Science ®Google Scholar
• Vincent C, Kalatzis V, Compain S, et al. A proposed new contiguous gene syndrome on 8q consists of Branchio-Oto-Renal (BOR) syndrome, Duane syndrome, a dominant form of hydrocephalus and trapeze aplasia: implications for the mapping of the BOR gene. Human Molecular Genetics 1994;3(10):1859–1866
   PubMed Web of Science ®Google Scholar
• Calabrese G, Stuppia L, Morizio E, et al. Detection of an insertion deletion of region 8q13-q21.2 in a patient with Duane syndrome: implications for mapping and cloning a Duane gene. European Journal of Human Genetics 1998;6(3):187–193
   PubMed Web of Science ®Google Scholar
• Versteegh FG, von Lindern JS, Kemper J, et al. Duane retraction syndrome, a new feature in 22q11 deletion syndrome? Clinical Dysmorphology 2000;9(2):135–137
   PubMed Web of Science ®Google Scholar
• Chew CK, Foster P, Hurst JA, Salmon JF. Duane's retraction syndrome associated with chromosome 4q27-31 segment deletion. American Journal of Ophthalmology 1995;119(6):807–809
   PubMed Web of Science ®Google Scholar
• Smith SB, Traboulsi EI. Duane syndrome in the setting of chromosomal duplications. American Journal of Ophthalmology 2010;150(6):932–938
   PubMed Web of Science ®Google Scholar
• Cullen P, Rodgers CS, Callen DF, et al. Association of familial Duane anomaly and urogenital abnormalities with a bisatellited marker derived from chromosome 22. Am J Med Genet A 1993;47(6):925–930
   Web of Science ®Google Scholar
• Gomez-Lado C, Eiris J, Martinez-Yriarte JM, et al. Duane's syndrome and 22 marker chromosome: a possible cat-eye syndrome. Acta Paediatrica 2006;95(11):1510–1511
   PubMed Web of Science ®Google Scholar
• Tibiletti MG, Sala E, Colombo D, et al. Chromosome 22 marker in a child with Duane syndrome and urogenital abnormalities. Annales de Genetique 1996;39(3):168–172
   PubMedGoogle Scholar
• Le Scouarnec S, Gribble SM. Characterising chromosome rearrangements: recent technical advances in molecular cytogenetics. Heredity 2012;108(1):75–85
   PubMed Web of Science ®Google Scholar
• Al-Baradie R, Yamada K, St Hilaire C, et al. Duane radial ray syndrome (Okihiro syndrome) maps to 20q13 and results from mutations in SALL4, a new member of the SAL family. American Journal of Human Genetics 2002;71(5):1195–1199
   PubMed Web of Science ®Google Scholar
• Chan WM, Miyake N, Zhu-Tam L, et al. Two novel CHN1 mutations in 2 families with Duane retraction syndrome. Arch Ophthalmol 2011;129(5):649–652
   PubMed Web of Science ®Google Scholar
• Traboulsi EI, Engle EC. Mutations in KIF21A are responsible for CFEOM1 worldwide. Ophthalmic Genetics 2004;25(4):237–239
   PubMedGoogle Scholar
• Abu-Amero KK, Azad TA, Spaeth GL, et al. Unaltered myocilin expression in the blood of primary open angle glaucoma patients. Mol Vis 2012;18:1004–1009
   PubMed Web of Science ®Google Scholar
• Pacholsky D, Vakeel P, Himmel M, et al. Xin repeats define a novel actin-binding motif. Journal of Cell Science 2004;117(Pt 22):5257–5268
   PubMed Web of Science ®Google Scholar
• Khan AO, Shinwari J, Omar A, et al. The optic nerve head in congenital fibrosis of the extraocular muscles. Ophthalmic Genetics 2011;32(3):175–180
   PubMed Web of Science ®Google Scholar
• Demer JL, Clark RA, Tischfield MA, Engle EC. Evidence of an asymmetrical endophenotype in congenital fibrosis of extraocular muscles type 3 resulting from TUBB3 mutations. Investigative Ophthalmology & Visual Science 2010;51(9):4600–4611
   PubMed Web of Science ®Google Scholar
• Abu-Amero KK, Kondkar AA, Alorainy IA, et al. Xq26.3 Microdeletion in a male with Wildervanck Syndrome. Ophthalmic Genetics 2013
   Web of Science ®Google Scholar
• Abu-Amero KK, Kondkar AA, Salih MA, et al. Partial chromosome 7 duplication with a phenotype mimicking the HOXA1 spectrum disorder. Ophthalmic Genetics 2013;34(1–2):90–96
   PubMed Web of Science ®Google Scholar
• Smith SB, Traboulsi EI. Duane syndrome in the setting of chromosomal duplications. Am J Ophthalmol 2010;150(6):932–938
   PubMed Web of Science ®Google Scholar
• Wang DZ, Hu X, Lin JL, et al. Differential displaying of mRNAs from the atrioventricular region of developing chicken hearts at stages 15 and 21. Frontiers in Bioscience 1996;1:a1–15
   PubMedGoogle Scholar
• Sinn HW, Balsamo J, Lilien J, Lin JJ. Localization of the novel Xin protein to the adherens junction complex in cardiac and skeletal muscle during development. Developmental Dynamics 2002;225(1):1–13
   PubMed Web of Science ®Google Scholar
• Wang Q, Lin JL, Reinking BE, et al. Essential roles of an intercalated disc protein, mXinbeta in postnatal heart growth and survival. Circulation Research 2010;106(9):1468–1478
   PubMed Web of Science ®Google Scholar
• Feldkirchner S, Schessl J, Muller S, et al. Patient-specific protein aggregates in myofibrillar myopathies: laser microdissection and differential proteomics for identification of plaque components. Proteomics 2012;12(23–24):3598–3609
   PubMed Web of Science ®Google Scholar