The Hunter-MacDonald syndrome with expanded phenotype including risk of meningioma: An update and review

American Journal of Medical Genetics, Part A

Volumn 146, Issue 1, 2008, Pages 83-92

  Armstrong, Linlea ^a,f   Graham, Gail E ^b   Schimke, R Neil ^c   Collins, Debra L ^c   Kirse, Daniel J ^d   Costello, Fiona ^b   Ardinger, Holly H ^e  

^a UNIVERSITY OF BRITISH COLUMBIA   (Canada)

^b UNIVERSITY OF OTTAWA   (Canada)

^c UNIVERSITY OF KANSAS MEDICAL CENTER   (United States)

^d WAKE FOREST SCHOOL OF MEDICINE   (United States)

^e CHILDREN S MERCY HOSPITAL   (United States)

^f CHILDREN S AND WOMEN S HEALTH CENTRE OF BRITISH COLUMBIA   (Canada)

Author keywords

Camptodactyly; Familial meningioma; Low frequency hearing loss; Multiple epiphyseal dysplasia; Scoliosis; Thumb subluxation

Indexed keywords

ADULT; ARTICLE; BONE DYSPLASIA; CAMPTODACTYLY; CANCER RISK; CANCER SUSCEPTIBILITY; CASE REPORT; FAMILIAL DISEASE; HEARING LOSS; HUMAN; HUNTER MACDONALD SYNDROME; MALE; MENINGIOMA; MULTIPLE MALFORMATION SYNDROME; PHENOTYPE; PRIORITY JOURNAL; SCOLIOSIS; SHORT STATURE; SYNDROME DELINEATION;

ABNORMALITIES, MULTIPLE; ADULT; CHILD; FEMALE; GENES, DOMINANT; HEARING LOSS; HUMANS; MALE; MENINGEAL NEOPLASMS; MENINGIOMA; PEDIGREE; PHENOTYPE; RISK FACTORS; SYNDROME;

EID: 37549070250     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.31998     Document Type: Article

References (17)

1. Ardinger HH, Schimke RN, Ardinger RH, Kirse DJ. 1999. Delineation of the HMS. Greenwood Genet Ctr 19:92.
2. Chapman KL, Mortier GR, Chapman K, Loughlin J, Grant ME, Briggs MD. 2001. Mutations in the region encoding the von Willebrand factor A domain of matrilin-3 are associated with multiple epiphyseal dysplasia. Nat Genet 28:393-396.
3. Coffman JA. 2003. Runx transcription factors and the developmental balance between cell proliferation and differentiation. Cell Biol Int 27:315-324.
4. Cohen MM Jr. 2001. RUNX genes, neoplasia, and cleidocranial dysplasia. Am J Med Genet 104:185-188.
5. Fassler R, Schnegelsberg PN, Dausman J, Shinya T, Muragaki Y, McCarthy MT, Olsen BR, Jaenisch R. 1994. Mice lacking alpha 1 (IX) collagen develop noninflammatory degenerative joint disease. Proc Natl Acad Sci USA 91:5070-5074.
6. Hunter AGW, MacDonald I. 1989. Mild multiple epiphyseal dysplasia with subtle Dysmorphic features and joint limitation. Dysmorph Clin Genet 3:8-12.
7. Jackson GC, Barker FS, Jakkula E, Czarny-Ratajczak M, Makitie O, Cole WG, Wright MJ, Smithson SF, Suri M, Rogala P, Mortier GR, Baldock C, Wallace A, Elles R, Ala-Kokko L, Briggs MD. 2004. Missense mutations in the beta strands of the single A-domain of matrilin-3 result in multiple epiphyseal dysplasia. J Med Genet 41:52-59.
8. Jakkula E, Makitie O, Czarny-Ratajczak M, Jackson GC, Damignani R, Susic M, Briggs MD, Cole WG, Ala-Kokko L. 2005. Mutations in the known genes are not the major cause of MED; distinctive phenotypic entities among patients with no identified mutations. Eur J Hum Genet 3:292-301.
9. Komatsu K, Nakamura N, Ghadami M, Matsumoto N, Kishino T, Ohta T, Niikawa N, Yoshiura K. 2002. Confirmation of genetic homogeneity of nonsyndromic low-frequency sensorineural hearing loss by linkage analysis and a DFNA6/14 mutation in a Japanese family. J Hum Genet 47:395-399.
10. Mundlos S, Otto F, Mundlos C, Mulliken JB, Aylsworth AS, Albright S, Lindhout D, Cole WG, Henn W, Knoll JH, Owen MJ, Mertelsmann R, Zabel BU, Olsen BR. 1997. Mutations involving the transcription factor CBFA1 cause cleidocranial dysplasia. Cell 89:773-779.
11. Nerlich AG. 1995. Collagen types in the middle ear mucosa. Eur Arch Otorhinolaryngol 252:443-446.
12. Pattisapu J, Miller JD, Sanford RA. 1986. Cleidocranial dysostosis and schwannoma. Neurosurgery 18:827-828.
13. Scherer A, Engelbrecht V, Nawatny J, Messing-Junger M, Reifenberger G, Modder U. 2001. MRI of the cerebellopontine angle in patients with cleidocranial dysostosis. Rofo Fortschr Geb Rontgenstr Neuen Bildgeb Verfahr 173:315-318.
14. Slepecky NB, Savage JE, Yoo TJ. 1992. Localization of type II, IX, and V collagen in the inner ear. Acta Otolaryngol (Stockh) 112:611-617.
15. Towbin JA. 1999. Toward an understanding of the cause of mitral valve prolapse. Am J Hum Genet 65:1238-1241.
16. van den Ende JJ, Mattelaer P, Declau F, Vanhoenacker F, Claes J, Van Hul E, Baten E. 2005. The facio-audio-symphalangism syndrome in a four generation family with a nonsense mutation in the NOG-gene. Clin Dysmorphol 14:73-80.
17. Visosky AM, Johnson J, Bingea B, Gurney T, Lalwani AK. 2003. Otolaryngological manifestations of cleidocranial dysplasia, concentrating on audiological findings. Laryngoscope 113: 1508-1514.