Severe osteopathia striata with cranial sclerosis in a female case with whole WTX gene deletion

American Journal of Medical Genetics, Part A

Volumn 161, Issue 3, 2013, Pages 594-599

  Herman, Sean B ^a   Holman, Sarah K ^b   Robertson, Stephen P ^b   Davidson, Lynn ^a   Taragin, Benjamin ^c   Samanich, Joy ^a  

^a MONTEFIORE MEDICAL CENTER   (United States)

^b UNIVERSITY OF OTAGO   (New Zealand)

^c ALBERT EINSTEIN COLLEGE OF MEDICINE   (United States)

Author keywords

Bone dysplasia; Osteopathia striata with cranial sclerosis; WTX

Indexed keywords

ARTICLE; ASB12 GENE; BONE DYSPLASIA; CASE REPORT; CHILD; CLEFT PALATE; COARSE FACE; COMPUTER ASSISTED TOMOGRAPHY; CRANIOFACIAL MALFORMATION; DEVELOPMENTAL DELAY; DEVELOPMENTAL DISORDER; FEMALE; GASTROSTOMY; GENE; GENE DELETION; GENE IDENTIFICATION; HEART VENTRICLE SEPTUM DEFECT; HIRSUTISM; HUMAN; LARYNGOMALACIA; MULTIPLEX LIGATION DEPENDENT PROBE AMPLIFICATION; NEWBORN JAUNDICE; NOSE MALFORMATION; NUCLEOTIDE SEQUENCE; OCCUPATIONAL THERAPY; OSTEOPATHIA STRIATA WITH CRANIAL SCLEROSIS; PATHOGENESIS; PHOTOTHERAPY; PHYSIOTHERAPY; PRESCHOOL CHILD; PRIORITY JOURNAL; PYLOROMYOTOMY; PYLORUS STENOSIS; SPECIAL EDUCATION; SPEECH THERAPY; TRACHEOSTOMY; WTX GENE; X CHROMOSOME INACTIVATION;

ABNORMALITIES, MULTIPLE; ADAPTOR PROTEINS, SIGNAL TRANSDUCING; ADULT; CHILD, PRESCHOOL; FEMALE; GENE DELETION; HUMANS; HYDROCEPHALUS; OSTEOSCLEROSIS; POLYHYDRAMNIOS; PREGNANCY; PREMATURE BIRTH; TUMOR SUPPRESSOR PROTEINS; ULTRASONOGRAPHY, PRENATAL;

EID: 84874207028     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.35716     Document Type: Article

References (35)

1. Balemans W, Ebeling M, Patel N, Van Hul E, Olson P, Dioszegi M, Lacza C, Wuyts W, Van Den Ende J, Willems P, Paes-Alves AF, Hill S, Bueno M, Ramos FJ, Tacconi P, Dikkers FG, Stratakis C, Lindpaintner K, Vickery B, Foernzler D, Val Hul W. 2001. Increased bone density in sclerosteosis is due to the deficiency of a novel secreted protein (SOST). Hum Mol Genet 10: 537-543.
2. Behninger C, Rott HD. 2000. Osteopathia striata with cranial sclerosis: Literature reappraisal argues for X-linked inheritance. Genet Couns 11: 157-167.
3. Berenholz L, Lippy W, Harrell M. 2002. Conductive hearing loss in osteopathia striata-cranial sclerosis. Otolaryngol Head Neck Surg 127: 124-126.
4. Bittel DC, Theodoro MF, Kibiryeva N, Fischer W, Talebizadeh Z, Butler MG. 2008. Comparison of X-chromosome inactivation patterns in multiple tissues from human females. J Med Genet 45: 309-313.
5. Bueno AL, Ramos FJ, Bueno O, Olivares JL, Bello ML, Bueno M. 1998. Severe malformations in males from families with osteopathia striata with cranial sclerosis. Clin Genet 54: 400-405.
6. Camp ND, James RG, Dawson DW, Yan F, Davison JM, Houck SA, Tang X, Zheng N, Major MB, Moon RT. 2012. Wilms tumor gene on X chromosome (WTX) inhibits degradation of NRF2 protein through competitive binding to KEAP1 protein. J Biol Chem 287: 6539-6550.
7. Clementi M, Bellato S, Rossetti A, Mammi I, Tenconi R. 1993. Is visual field reduction a component manifestation of osteopathia striata with cranial sclerosis? Am J Med Genet 46: 724-726.
8. De Keyser J, Bruyland M, Greve deJ, Leemans J, Potvlige R, Six R, Ebinger G. 1983. Osteopathia striata with cranial sclerosis. Clin Neurol Neurosurg 85: 41-48.
9. Fukuzawa R, Holman SK, Chow CW, Savarirayan R, Reeve AE, Robertson SP. 2010. WTX mutations can occur both early and late in the pathogenesis of Wilms tumour. J Med Genet 47: 791-794.
10. Gay BB Jr, Elsas LJ, Wyly JB, Pasquali M. 1994. Osteopathia striata with cranial sclerosis. Pediatr Radiol 24: 56-60.
11. Grohmann A, Tanneberger K, Alzner A, Schneikert J, Behrens J. 2007. AMER1 regulates the distribution of the tumor suppressor APC between microtubules and the plasma membrane. J Cell Sci 120: 3738-3747.
12. Hatakeyama C, Anderson CL, Beever CL, Penaherrera MS, Brown CJ, Robinson WP. 2004. The dynamics of X-inactivation skewing as women age. Clin Genet 6: 327-332.
13. Holman SK, Daniel P, Jenkins ZA, Herron RL, Morgan T, Savarirayan R, Chow CW, Bohring A, Mosel A, Lacombe D, Steiner B, Schmitt-Mechelke T, Schroter B, Raas-Rothschild A, Minaur SG, Porteous M, Parker M, Quarrell O, Tapon D, Cormier-Daire V, Mansour S, Nash R, Bindoff LA, Fiskerstrand T, Robertson SP. 2011. The male phenotype in osteopathia striata congenita with cranial sclerosis. Am J Med Genet Part A 155A: 2397-2408.
14. Holman SK, Morgan T, Baujat G, Cormier-Daire V, Cho T-J, Lees M, Samanich J, Tapon D, Hove HD, Hing A, Hennekam R, Roberston SP. 2012. Osteopathia striata congenita with cranial sclerosis and intellectual disability due to contiguous gene deletions involving the WTX locus. Clin Genet DOI: 10.1111/j.1399-0004.2012.01905.x.
15. Hurt RL. 1953. Osteopathia striata- Voorhoeve's disease. J Bone Joint Surg 35B: 89-96.
16. Jenkins ZA, van Kogelenberg M, Morgan T, Jeffs A, Fukuzawa R, Pearl E, Thaller C, Hing AV, Porteous ME, Garcia-Minaur S, Bohring A, Lacombe D, Stewart F, Fiskerstrand T, Bindoff L, Berland S, Ades LC, Tchan M, David A, Wilson LC, Hennekam RC, Donnai D, Mansour S, Cormier-Daire V, Robertson SP. 2009. Germline mutations in WTX cause a sclerosing skeletal dysplasia but do not predispose to tumorigenesis. Nat Genet 41: 95-100.
17. Klaus A, Birchmeier W. 2008. WNT signaling and its impact on development and cancer. Nat Rev Cancer 8: 387-398.
18. Kohroki J, Nishiyama T, Nakamura T, Masuho Y. 2005. ASB proteins interact with Cullin5 and Rbx2 to form E3 ubiquitin ligase complexes. FEBS Lett 579: 6796-6802.
19. König R. 1996. Osteopathia striata with cranial sclerosis: Variable expressivity in a four generation pedigree. Am J Med Genet 63: 68-73.
20. Kornreich L, Grunebaum M, Ziv N, Shuper A, Mimouni M. 1988. Osteopathia striata, cranial sclerosis with cleft palate and facial nerve palsy. Eur J Pediatr 147: 101-103.
21. Luerssen K, Ptok M. 2006. Osteopathia striata with cranial sclerosis and hearing loss. Eur Arch Otorhinolaryngol 263: 123-126.
22. Magliulo G, Parrotto D, Zicari AM, Zappala D, Mele LL, Primicerio P, Marini M. 2007. Osteopathia striata-cranial sclerosis: Otorhinolaryngologic clinical presentation and radiologic findings. Am J Otolaryngol 28: 59-63.
23. Moisan A, Rivera MN, Lotinun S, Akhavanfard S, Coffman EJ, Cook EB, Stoykova S, Mukherjee S, Schoonmaker JA, Burger A, Kim WJ, Kronenberg HM, Baron R, Haber DA, Bardeesy N. 2011. The WTX tumor suppressor regulates mesenchymal progenitor cell fate specification. Dev Cell 20: 583-596.
24. Pellegrino JE, McDonald-McGinn DM, Schneider A, Markowitz RI, Zackai EH. 1997. Further clinical delineation and increased morbidity in males with osteopathia striata with cranial sclerosis: An X-linked disorder? Am J Med Genet 70: 159-165.
25. Perdu B, Lakeman P, Mortier G, Koenig R, Lachmeijer AMA, Van Hul W. 2011. Two novel WTX mutations underscore the unpredictability of male survival in osteopathia striata with cranial sclerosis. Clin Genet 80: 383-388.
26. Perdu B, de Freitas F, Frints SGM, Schouten M, Schrander-Stumpel C, Barbosa M, Pinto-Basto J, Reis-Lima M, de Vernejoul MC, Becker K, Freckmann ML, Keymolen K, Haan E, Savarirayan R, Koenig R, Zabel B, Vanhoenacker FM, Van Hul W. 2010. Osteopathia striata with cranial sclerosis owing to WTX gene defect. J Bone Miner Res 25: 82-90.
27. Piechowiak H, Goebel FD, Hirche U, Tyrell R. 1986. Cranial sclerosis with striated bone disease (osteopathia striata). Klin Padiatr 198: 418-424.
28. Rott HD, Krieg P, Rutschle H, Kraus C. 2003. Multiple malformations in a male and maternal osteopathia striata with cranial sclerosis (OSCS). Genet Couns 14: 281-288.
29. Savarirayan R, Nance J, Morris L, Haan E, Couper R. 1997. Osteopathia striata with cranial sclerosis: Highly variable phenotypic expression within a family. Clin Genet 52: 199-205.
30. Sharp A, Robinson D, Jacobs P. 2000. Age- and tissue-specific variation of X-chromosome inactivation ratios in normal women. Hum Genet 107: 343-349.
31. Tanneberger K, Pfister AS, Brauburger K, Schneikert J, Hadjihannas MV, Kriz V, Schulte G, Bryja V, Behrens J. 2011. Amer1/WTX couples Wnt-induced formation of PtdIns(4, 5)P2 to LRP6 phosphorylation. EMBO J 30: 1433-1443.
32. Van Wesenbeeck L, Cleiren E, Gram J, Beals RK, Benichou O, Scopelliti D, Key L, Renton T, Bartels C, Gong Y, Warman ML, De Vernejoul MC, Bollerslev K, Van Hul W. 2003. Six novel missense mutations in the LDL receptor-related protein 5 (LRP5) gene in different conditions with an increased bone density. Am J Hum Genet 72: 763-771.
33. Viot GDL, David A, Mathieu M, deBroca A, Faivre L, Gigarel N, Munnich A, Lyonnet S, Le Merrer M, Cormier-Daire V. 2002. Osteopathia striata cranial sclerosis: Non-random X-inactivation suggestive of X-linked dominant inheritance. Am J Med Genet 107: 1-4.
34. Ward LM, Rauch F, Travers R, Roy M, Montes J, Chabot G, Glorieux FH. 2004. Osteopathia striata with cranial sclerosis: Clinical, radiological, and bone histological findings in an adolescent girl. Am J Med Genet Part A 129A: 8-12.
35. Winter R, Crawfurd M, Meire H, Mitchell N. 1980. Osteopathia striata with cranial sclerosis: Highly variable expression within a family including cleft palate in two neonatal cases. Clin Genet 18: 462-474.