A family with features overlapping Okihiro syndrome, hemifacial microsomia and isolated Duane anomaly caused by a novel SALL4 mutation

American Journal of Medical Genetics

Volumn 140 A, Issue 3, 2006, Pages 222-226

  Terhal, Paulien ^a   Rösler, Bernd ^b   Kohlhase, Jürgen ^b  

^a UNIVERSITY MEDICAL CENTER UTRECHT   (Netherlands)

^b UNIVERSITY OF FREIBURG   (Germany)

Author keywords

Duane anomaly; Hemifacial microsomia; Okihiro; SALL4 gene

Indexed keywords

MESSENGER RNA;

ADULT; ARTICLE; CLINICAL ARTICLE; CLINICAL FEATURE; DUANE RETRACTION SYNDROME; EXON; FACE MALFORMATION; FAMILY; FEMALE; GENE; GENE IDENTIFICATION; GENE MUTATION; GENETIC ANALYSIS; HEMIFACIAL MICROSOMIA; HETEROZYGOTE; HUMAN; HUMAN TISSUE; INTRON; LIMB MALFORMATION; MALE; NONSENSE MUTATION; OKIHIRO SYNDROME; PHENOTYPE; PRIORITY JOURNAL; SALL4 GENE; ZINC FINGER MOTIF;

ABNORMALITIES, MULTIPLE; ADULT; AGED; CODON, NONSENSE; DNA MUTATIONAL ANALYSIS; DUANE RETRACTION SYNDROME; FACIAL ASYMMETRY; FAMILY HEALTH; FEMALE; HAND DEFORMITIES, CONGENITAL; HETEROZYGOTE; HUMANS; INFANT; MALE; MUTATION; PEDIGREE; TRANSCRIPTION FACTORS;

EID: 31944449238     PISSN: 15524825     EISSN: None     Source Type: Journal    
DOI: 10.1002/ajmg.a.31060     Document Type: Article

References (26)

1. Al-Baradie R, Yamada K, St Hilaire C, Chan WM, Andrews C, Mclntosh N, Nakano M, Martonyi EJ, Raymond WR, Okumura S, Okihiro MM, Engle EC. 2002. 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 71:1195-1199.
2. Aleksic S, Budzilovich G, Choy A, Reuben R, Randt C, Finegold M, McCarthy J, Converse J, Feigin I. 1976. Congenital ophthalmoplegia in oculoauriculovertebral dysplasia in hemifacial microsomia (Goldenhar-Gorlin syndrome). A clinicopathologic study and review of the literature. Neuron 26:638-644
3. Baum J, Feingold M. 1973. Ocular aspects of Goldenhar's syndrome. Am J Ophthalmol 75:250-257.
4. Blanck C, Kohlhase J, Engels S, Burfeind P, Engel W, Bottani A, Patel MS, Kroes HY, Cobben JM. 2000. Three novel SALL1 mutations extend the mutational spectrum in Townes-Brocks syndrome. J Med Genet 37:303-307
5. Borozdin W, Boehm D, Leipoldt M, Wilhelm C, Reardon W, Clayton-Smith J, Becker K, Mühlendyck H, Winter R, Giray O, Silan F, Kohlhase J. 2004a. SALL4 deletions are a common cause of Okihiro and acro-renal-ocular syndromes and confirm haploinsufficiency as the pathogenetic mechanism. J Med Genet 41:e113.
6. Borozdin W, Wright MJ, Hennekam RCM, Hannibal MC, Crow YJ, Neumann TE. Kohlhase J. 2004b. Novel mutations in the gene SALL4 provide further evidence for Acro-Renal-Ocular and Okihiro syndromes being allelic entities, and extend the phenotypic spectrum. J Med Genet 41:e102.
7. Brassington AM, Sung SS, Toydemir RM, Le T, Roeder AD, Rutherford AE, Whitby FG, Jorde LB, Bamshad MJ. 2003. Expressivity of Holt-Oram syndrome is not predicted by TBX5 genotype. Am J Hum Genet 73:74-85.
8. Burck U. 1983. Genetic aspects of hemifacial microsomia. Hum Genet 64:291-296.
9. Gabrielli O, Bonifazi V, Offidani AM, Cellini A, Coppa GV, Giorgi PL. 1993. Description of a patient with difficult nosological classification: Goldenhar syndrome or Townes-Brocks syndrome. Minerva Pediatr 45:459-462.
10. Godel V, Regenbogen L, Goya V, Goodman R. 1982. Autosomal dominant Goldenhar syndrome. Birth Defects Orig Art Ser 18:621-628.
11. Hayes A, Costa T, Polomeno RC. 1985. The Okihiro syndrome of Duane anomaly, radial ray abnormalities, and deafness. Am J Med Genet 22:273-280.
12. Keegan CE, Mulliken JB, Wu BL, Korf BR. 2001. Townes-Brocks syndrome versus expanded spectrum hemifacial microsomia: Review of eight patients and further evidence of a "hot spot" for mutation in the SALL1 gene. Genet Med 3:310-313.
13. Kohlhase J, Wischermann A, Reichenbach H, Froster U, Engel W. 1998. Mutations in the SALL1 putative transcription factor gene cause Townes-Brocks syndrome. Nat Genet 18:81-83.
14. Kohlhase J, Taschner P, Burfeind P, Pasche B, Newman B, Blanck C, Breuning M, ten Kate L, Maaswinkel-Mooy P, Mitulla B, Seidel J, Kirkpatrick S, Pauli R, Wargowski D, Devriendt K, Proesmans W, Gabrielli O, Coppa G, Wesby-van Swaay E, Trembath R, Schinzel A, Reardon W, Seemanova E, Engel W. 1999. Molecular analysis of SALL1 mutations in Townes-Brocks syndrome. Am J Hum Genet 64:435-445.
15. Kohlhase J, Heinrich M, Schubert L, Liebers M, Kispert A, Laccone F, Turnpenny P, Winter RM, Reardon W. 2002. Okihiro syndrome is caused by SALL4 mutations. Hum Mol Genet 11:2979-2987.
16. Kohlhase J, Schubert L, Liebers M, Rauch A, Becker K, Mohammed SN, Newbury-Ecob R, Reardon W. 2003. Mutations at the SALL4 locus on chromosome 20 result in a range of clinically overlapping phenotypes, including Okihiro syndrome, Holt-Oram syndrome, acro-renal-ocular syndrome, and patients previously reported to represent thalidomide embryopathy. J Med Genet 40:473-478.
17. Maquat LE. 2004. Nonsense-mediated mRNA decay: Splicing, translation and mRNP dynamics. Nat Rev Mol Cell Biol 5:88-99.
18. Miller M. 1985. Association of Duane retraction syndrome with craniofacial malformations. J Craniofac Genet Dev Biol Suppl 1:273-282.
19. Moeschler J, Clarren SK. 1982. Familial occurrence of hemifacial microsomia with radial limb defects. Am J Med Genet 12:371-375.
20. Pieroni D. 1969. Goldenhar's syndrome associated with bilateral Duane's retraction syndrome. J Pediatr Ophthalmol 6:16-18.
21. Redemann N, Gaul U, Jäckle H. 1988. Disruption of a putative Cys-zinc interaction eliminates the biological activity of the Krüppel finger protein. Nature 332:90-92.
22. Regenbogen L, Godel V, Goya V, Goodman R. 1982. Further evidence for an autosomal dominant form of oculoauriculovertebral dysplasia. Clin Genet 21:161-167.
23. Stoll C, Viville B, Treisser A, Gasser B. 1998. A family with dominant oculoauriculovertebral spectrum. Am J Med Genet 78:345-349.
24. Summitt R. 1969. Familial Goldenhar syndrome. Birth Defects Orig Art Ser 5:106-109.
25. Taysi K, Marsh J, Wise D. 1983. Familial hemifacial microsomia. Cleft Palate J 2:47-53.
26. Wabbels BK, Lorenz B, Kohlhase J. 2004. No evidence of SALL4 mutations in isolated sporadic Duane Retraction "Syndrome" (DURS). Am J Med Genet Part A 131A:216-218.