Atypical Silver-Russell phenotype resulting from maternal uniparental disomy of chromosome 7

American Journal of Medical Genetics, Part A

Volumn 152, Issue 9, 2010, Pages 2342-2345

  Stark, Zornitza ^a   Ryan, Monique M ^b,c   Bruno, Damien L ^a   Burgess, Trent ^a   Savarirayan, Ravi ^a,c  

^a MURDOCH CHILDREN'S RESEARCH INSTITUTE   (Australia)

^b ROYAL CHILDREN'S HOSPITAL   (Australia)

^c UNIVERSITY OF MELBOURNE   (Australia)

Author keywords

Maternal uniparental disomy; Myoclonus dystonia syndrome; Silver Russell syndrome; SNP microarray

Indexed keywords

CLONAZEPAM; ETIRACETAM; VALPROIC ACID;

ARTICLE; CASE REPORT; CHILD; CHROMOSOME 7; CHROMOSOME ANALYSIS; DUANE RETRACTION SYNDROME; FACE MALFORMATION; FEMALE; GENOME IMPRINTING; GROWTH RETARDATION; HUMAN; HYPERCALCEMIA; MYOCLONUS; PRESCHOOL CHILD; PRIORITY JOURNAL; SILVER RUSSELL SYNDROME; UNIPARENTAL DISOMY;

ABNORMALITIES, MULTIPLE; CHILD; CHROMOSOMES, HUMAN, PAIR 7; DNA MUTATIONAL ANALYSIS; FEMALE; GENOMIC IMPRINTING; HUMANS; PHENOTYPE; SARCOGLYCANS; SILVER-RUSSELL SYNDROME; UNIPARENTAL DISOMY;

EID: 77956106350     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.33590     Document Type: Article

References (20)

1. Abu-Amero S, Monk D, Frost J, Preece M, Stanier P, Moore GE. 2008. The genetic aetiology of Silver-Russell syndrome. J Med Genet 45:193-199.
2. Engel E. 1980. A new genetic concept: Uniparental disomy and its potential effect, isodisomy. Am J Med Genet 6:137-143. (Pubitemid 10004821)
3. Gasser T. 1998. Inherited myoclonus-dystonia syndrome. Adv Neurol 78:325-334.
4. Gicquel C, Rossignol S, Cabrol S, Houang M, Steunou V, Barbu V, Danton F, Thibaud N, Le Merrer M, Burglen L, Bertrand AM, Netchine I, Le Bouc Y. 2005. Epimutation of the telomeric imprinting center region on chromosome 11p15 in Silver-Russell syndrome. Nat Genet 37:1003-1007.
5. Guettard E, Portnoi MF, Lohmann-Hedrich K, Keren B, Rossignol S, Winkler S, El Kamel I, Leu S, Apartis E, Vidailhet M, Klein C, Roze E. 2008. Myoclonus-dystonia due to maternal uniparental disomy. Arch Neurol 65:1380-1385.
6. Hannula K, Lipsanen-Nyman M, Kristo P, Kaitila I, Simola KO, Lenko HL, Tapanainen P, Holmberg C, Kere J. 2002. Genetic screening for maternal uniparental disomy of chromosome 7 in prenatal and postnatal growth retardation of unknown cause. Pediatrics 109:441-448.
7. Kitagawa H, Fujiki R, Yoshimura K, Mezaki Y, Uematsu Y, Matsui D, Ogawa S, Unno K, Okubo M, Tokita A, Nakagawa T, Ito T, Ishimi Y, Nagasawa H, Matsumoto T, Yanagisawa J, Kato S. 2003. The chromatin-remodeling complex WINAC targets a nuclear receptor to promoters and is impaired in Williams syndrome. Cell 113:905-917.
8. Kotzot D. 2000. Mental retardation, developmental delay, and partial psychomotor deficits inmaternal uniparental disomy 7. Eur J Pediatr 159:930.
9. Kotzot D, Balmer D, Baumer A, Chrzanowska K, Hamel BC, Ilyina H, Krajewska-Walasek M, Lurie IW, Otten BJ, Schoenle E, Tariverdian G, Schinzel A. 2000. Maternal uniparental disomy 7 - Review and further delineation of the phenotype. Eur J Pediatr 159:247-256.
10. Lai KY, Skuse D, Stanhope R, Hindmarsh P. 1994. Cognitive abilities associated with the Silver-Russell syndrome. Arch Dis Child 71:490-496. (Pubitemid 24375690)
11. Muller B, Hedrich K, Kock N, Dragasevic N, Svetel M, Garrels J, Landt O, Nitschke M, Pramstaller PP, Reik W, Schwinger E, Sperner J, Ozelius L, Kostic V, Klein C. 2002. Evidence that paternal expression of the epsilonsarcoglycan gene accounts for reduced penetrance inmyoclonus-dystonia. Am J Hum Genet 71:1303-1311.
12. Netchine I, Rossignol S, Dufourg MN, Azzi S, Rousseau A, Perin L, Houang M, Steunou V, Esteva B, Thibaud N, Demay MC, Danton F, Petriczko E, Bertrand AM, Heinrichs C, Carel JC, Loeuille GA, Pinto G, Jacquemont ML, Gicquel C, Cabrol S, Le Bouc Y. 2007. 11p15 imprinting center region 1 loss of methylation is a common and specific cause of typical Russell-Silver syndrome:Clinical scoring systemandepigenetic-phenotypic correlations. J Clin Endocrinol Metab 92:3148-3154.
13. Perez Jurado LA, Li X, Francke U. 1995. The human calcitonin receptor gene (CALCR) at 7q21.3 is outside the deletion associated with the Williams syndrome. Cytogenet Cell Genet 70:246-249.
14. Preece MA, Price SM, Davies V, Clough L, Stanier P, Trembath RC, Moore GE. 1997. Maternal uniparental disomy 7 in Silver-Russell syndrome. J Med Genet 34:6-9.
15. Price SM, Stanhope R, Garrett C, Preece MA, Trembath RC. 1999. The spectrum of Silver-Russell syndrome: A clinical and molecular genetic study and new diagnostic criteria. J Med Genet 36:837-842. (Pubitemid 29520574)
16. Russell A. 1954. A syndrome of intra-uterine dwarfism recognizable at birth with cranio-facial dysostosis, disproportionately short arms, and other anomalies (5 examples). Proc R Soc Med 47:1040-1044.
17. Silver HK, Kiyasu W, George J, Deamer WC. 1953. Syndrome of congenital hemihypertrophy, shortness of stature, and elevated urinary gonadotropins. Pediatrics 12:368-376.
18. Tischfield MA, Bosley TM, Salih MA, Alorainy IA, Sener EC, Nester MJ, Oystreck DT, Chan WM, Andrews C, Erickson RP, Engle EC. 2005. Homozygous HOXA1 mutations disrupt human brainstem, inner ear, cardiovascular and cognitive development. Nat Genet 37: 1035-1037.
19. Tischfield MA, Chan WM, Grunert JF, Andrews C, Engle EC. 2006. HOXA1 mutations are not a common cause of Duane anomaly. Am J Med Genet Part A 140A:900-902.
20. Zimprich A, Grabowski M, Asmus F, Naumann M, Berg D, Bertram M, Scheidtmann K, Kern P, Winkelmann J, Muller-Myhsok B, Riedel L, Bauer M, Muller T, Castro M, Meitinger T, Strom TM, Gasser T. 2001. Mutations in the gene encoding epsilon-sarcoglycan cause myoclonus-dystonia syndrome. Nat Genet 29:66-69.