Large scale deletions in the GPC3 gene may account for a minority of cases of Simpson-Golabi-Behmel syndrome

Journal of Medical Genetics

Volumn 34, Issue 6, 1997, Pages 480-483

  Lindsay, Susan ^a   Ireland, Maggie ^a   O'Brien, Ottie ^a   Clayton Smith, Jill ^b   Hurst, Jane A ^c   Mann, Jillian ^d   Cole, Trevor ^e   Sampson, Julian ^f   Slaney, Sarah ^g   Schlessinger, David ^h   Burn, John ^a   Pilia, Giuseppe ⁱ  

^a NEWCASTLE UNIVERSITY   (United Kingdom)

^b ST MARY S HOSPITAL   (United Kingdom)

^c CHURCHILL HOSPITAL   (United Kingdom)

^d BIRMINGHAM CHILDREN S HOSPITAL   (United Kingdom)

^e BIRMINGHAM WOMEN S HOSPITAL   (United Kingdom)

^f UNIVERSITY HOSPITAL OF WALES   (United Kingdom)

^g UNIVERSITY COLLEGE LONDON   (United Kingdom)

^h WASHINGTON UNIVERSITY SCHOOL OF MEDICINE   (United States)

ⁱ Evolutiva/Osp Reg Microcitemie ASL   (Italy)

Author keywords

Glypican 3; Overgrowth disorder; Simpson Golabi Behmel syndrome; X linked

Indexed keywords

GLYPICAN; PRIMER DNA;

ARTICLE; CHILD; CLINICAL ARTICLE; CONTROLLED STUDY; EXON; FACE DYSMORPHIA; FACIES; FAMILY; FEMALE; GENE AMPLIFICATION; GENE DELETION; GROWTH DISORDER; HUMAN; INFANT; MALE; MALFORMATION SYNDROME; NEWBORN; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; SIMPSON GOLABI BEHMEL SYNDROME;

EID: 16944364413     PISSN: 00222593     EISSN: None     Source Type: Journal    
DOI: 10.1136/jmg.34.6.480     Document Type: Article

References (12)

1. Simpson JL, Landey S, New M, German JA. A previously unrecognised X-linked syndrome of dysmorphia. Birth Defects 1975;XI:18-24.
2. Golabi M, Rosen L. A new X-linked mental retardation overgrowth syndrome? Am J Med Genet 1984;17:345-58.
3. Behmel A, Plochi E, Rosenkranz W. A new X-linked dysplasia gigantism syndrome: identical with the Simpson dysplasia syndrome? Hum Genet 1984;67:409-13.
4. Neri G, Marini R, Cappa M, Borelli P, Opitz JM. Simpson-Golabi-Behmel syndrome: an X-linked encephalotrophoschisis syndrome. Am J Med Genet 1988;30:287-99.
5. Hughes-Benzie RM, Hunter AG, Allanson JE, Mackenzie AE. Simpson-Golabi-Behmel syndrome associated with renal dysplasia and embryonal tumours: localisation of the gene to Xqcen-q21. Am J Med Genet 1994;43:428-35.
6. Pilia G, Hughes-Benzie RM, Mackenzie AE, et al. Mutations in GPC3, a glypican gene, cause the Simpson-Golabi-Behmel overgrowth syndrome. Nat Genet 1996;12:241-7.
7. Weksberg R, Squire JA, Templeton DM. Glypicans: a growing trend. Nat Genet 1996;12:225-7.
8. Konig R, Fuchs S, Kern C, Langenbeck U. Simpson-Golabi-Behmel syndrome with severe cardiac arrhythmias. Am J Med Genet 1991;38:244-7.
9. Hughes-Benzie RM, Xuan JY, Pilia G, Schlessinger D, Mackenzie AE. Simpson-Golabi-Behmel syndrome: mutation analysis of the causative GPC gene and preliminary biochemical assessment of GPC. Am J Hum Genet 1996;59:A140.
10. Hughes-Benzie RM, Allanson J, Hunter A, Cole T. The importance of differentiating Simpson-Golabi-Behmel and Beckwith Wiedemann syndromes. J Med Genet 1992;29:928.
11. De Chiara TM, Robertson EJ, Efstratiadis A. Parental imprinting of the mouse insulin-like growth factor 2 gene. Cell 1991;64:849-59.
12. Wang ZQ, Fung MR, Barlow DP, Wagner EF. Regulation of embryonic growth and lysosomal targeting by the imprinted IGF2/MPR gene. Nature 1994;372:464-7.