CDKN1C mutation affecting the PCNA-binding domain as a cause of familial Russell Silver syndrome

Journal of Medical Genetics

Volumn 50, Issue 12, 2013, Pages 823-830

  Brioude, F ^a,b   Oliver Petit, I ^c   Blaise, A ^b,d   Praz, F ^b,d   Rossignol, S ^a,d   Le Jule, M ^a   Thibaud, N ^a   Faussat, A M ^e   Tauber, M ^c,e   Le Bouc, Y ^b,d   Netchine, I ^a,d  

^a ARMAND TROUSSEAU HOSPITAL   (France)

^b SORBONNE UNIVERSITÉ   (France)

^c HÔPITAL DES ENFANTS   (France)

^d INSERM   (France)

^e France   (France)

Author keywords

[No Author keywords available]

Indexed keywords

ARGININE; CYCLIN DEPENDENT KINASE INHIBITOR 1C; PROLINE;

ADRENAL FUNCTION; ADRENAL INSUFFICIENCY; ALLELE; ARTICLE; BONE DYSPLASIA; CELL CYCLE; EXON; FAMILIAL DISEASE; GENE MUTATION; GENE SEQUENCE; GENETIC ANALYSIS; GENETIC VARIABILITY; HUMAN; IN VITRO STUDY; INTRAUTERINE GROWTH RETARDATION; INTRON; METAPHYSEAL DYSPLASIA; NUCLEOTIDE SEQUENCE; PHENOTYPE; PRIORITY JOURNAL; PROTEIN DOMAIN; PROTEIN STABILITY; SILVER RUSSELL SYNDROME; SITE DIRECTED MUTAGENESIS; UROGENITAL TRACT MALFORMATION;

CDKN1C; CLINICAL GENETICS; FETAL GROWTH; IMPRINTING; RUSSELL SILVER SYNDROME;

AMINO ACID SEQUENCE; ANALYSIS OF VARIANCE; BINDING SITES; COMPUTER SIMULATION; CYCLIN-DEPENDENT KINASE INHIBITOR P57; FEMALE; FETAL GROWTH RETARDATION; HELA CELLS; HUMANS; MALE; MOLECULAR SEQUENCE DATA; MUTATION; PEDIGREE; PROLIFERATING CELL NUCLEAR ANTIGEN; SEQUENCE ALIGNMENT; SILVER-RUSSELL SYNDROME;

EID: 84890244971     PISSN: 00222593     EISSN: 14686244     Source Type: Journal    
DOI: 10.1136/jmedgenet-2013-101691     Document Type: Article

References (36)

1. 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. 11p15 imprinting center region 1 loss of methylation is a common and specific cause of typical Russell-Silver syndrome: clinical scoring system and epigenetic-phenotypic correlations. J Clin Endocrinol Metab 2007;92:3148-54.
2. Demars J, Le Bouc Y, El-Osta A, Gicquel C. Epigenetic and genetic mechanisms of abnormal 11p15 genomic imprinting in Silver-Russell and Beckwith-Wiedemann syndromes. Curr Med Chem 2011;18:1740-50.
3. 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. Epimutation of the telomeric imprinting center region on chromosome 11p15 in Silver-Russell syndrome. Nat Genet 2005;37:1003-7.
4. Eggermann T. Silver-Russell and Beckwith-Wiedemann syndromes: opposite (epi) mutations in 11p15 result in opposite clinical pictures. Horm Res 2009;71(Suppl 2):30-5.
5. Bullman H, Lever M, Robinson DO, Mackay DJ, Holder SE, Wakeling EL. Mosaic maternal uniparental disomy of chromosome 11 in a patient with Silver-Russell syndrome. J Med Genet 2008;45:396-9.
6. Fisher AM, Thomas NS, Cockwell A, Stecko O, Kerr B, Temple IK, Clayton P. Duplications of chromosome 11p15 of maternal origin result in a phenotype that includes growth retardation. Hum Genet 2002;111:290-6.
7. Eggermann T, Meyer E, Obermann C, Heil I, Schuler H, Ranke MB, Eggermann K, Wollmann HA. Is maternal duplication of 11p15 associated with Silver-Russell syndrome? J Med Genet 2005;42:e26.
8. Schonherr N, Meyer E, Roos A, Schmidt A, Wollmann HA, Eggermann T. The centromeric 11p15 imprinting centre is also involved in Silver-Russell syndrome. J Med Genet 2007;44:59-63.
9. Demars J, Rossignol S, Netchine I, Lee KS, Shmela M, Faivre L, Weill J, Odent S, Azzi S, Callier P, Lucas J, Dubourg C, Andrieux J, Le Bouc Y, El-Osta A, Gicquel C. New insights into the pathogenesis of Beckwith-Wiedemann and Silver-Russell syndromes: contribution of small copy number variations to 11p15 imprinting defects. Hum Mutat 2011;32:1171-82.
10. Gronskov K, Poole RL, Hahnemann JM, Thomson J, Tumer Z, Brondum-Nielsen K, Murphy R, Ravn K, Melchior L, Dedic A, Dolmer B, Temple IK, Boonen SE, Mackay DJ. Deletions and rearrangements of the H19/IGF2 enhancer region in patients with Silver-Russell syndrome and growth retardation. J Med Genet 2011;48:308-11.
11. Demars J, Shmela ME, Rossignol S, Okabe J, Netchine I, Azzi S, Cabrol S, Le Caignec C, David A, Le Bouc Y, El-Osta A, Gicquel C. Analysis of the IGF2/H19 imprinting control region uncovers new genetic defects, including mutations of OCT-binding sequences, in patients with 11p15 fetal growth disorders. Hum Mol Genet 2010;19:803-14.
12. De Crescenzo A, Sparago A, Cerrato F, Palumbo O, Carella M, Miceli M, Bronshtein M, Riccio A, Yaron Y. Paternal deletion of the 11p15.5 centromeric-imprinting control region is associated with alteration of imprinted gene expression and recurrent severe intrauterine growth restriction. J Med Genet 2013;50:99-103.
13. Obermann C, Meyer E, Prager S, Tomiuk J, Wollmann HA, Eggermann T. Searching for genomic variants in IGF2 and CDKN1C in Silver-Russell syndrome patients. Mol Genet Metab 2004;82:246-50.
14. Hatada I, Ohashi H, Fukushima Y, Kaneko Y, Inoue M, Komoto Y, Okada A, Ohishi S, Nabetani A, Morisaki H, Nakayama M, Niikawa N, Mukai T. An imprinted gene p57KIP2 is mutated in Beckwith-Wiedemann syndrome. Nat Genet 1996;14:171-3.
15. Lee MP, DeBaun M, Randhawa G, Reichard BA, Elledge SJ, Feinberg AP. Low frequency of p57KIP2 mutation in Beckwith-Wiedemann syndrome. Am J Hum Genet 1997;61:304-9.
16. O'Keefe D, Dao D, Zhao L, Sanderson R, Warburton D, Weiss L, Anyane-Yeboa K, Tycko B. Coding mutations in p57KIP2 are present in some cases of Beckwith-Wiedemann syndrome but are rare or absent in Wilms tumors. Am J Hum Genet 1997;61:295-303.
17. Hatada I, Nabetani A, Morisaki H, Xin Z, Ohishi S, Tonoki H, Niikawa N, Inoue M, Komoto Y, Okada A, Steichen E, Ohashi H, Fukushima Y, Nakayama M, Mukai T. New p57KIP2 mutations in Beckwith-Wiedemann syndrome. Hum Genet 1997;100:681-3.
18. Lam WW, Hatada I, Ohishi S, Mukai T, Joyce JA, Cole TR, Donnai D, Reik W, Schofield PN, Maher ER. Analysis of germline CDKN1C (p57KIP2) mutations in familial and sporadic Beckwith-Wiedemann syndrome (BWS) provides a novel genotype-phenotype correlation. J Med Genet 1999;36:518-23.
19. Engel JR, Smallwood A, Harper A, Higgins MJ, Oshimura M, Reik W, Schofield PN, Maher ER. Epigenotype-phenotype correlations in Beckwith-Wiedemann syndrome. J Med Genet 2000;37:921-6.
20. Li M, Squire J, Shuman C, Fei YL, Atkin J, Pauli R, Smith A, Nishikawa J, Chitayat D, Weksberg R. Imprinting status of 11p15 genes in Beckwith-Wiedemann syndrome patients with CDKN1C mutations. Genomics 2001;74:370-6.
21. Lew JM, Fei YL, Aleck K, Blencowe BJ, Weksberg R, Sadowski PD. CDKN1C mutation in Wiedemann-Beckwith syndrome patients reduces RNA splicing efficiency and identifies a splicing enhancer. Am J Med Genet A 2004;127A:268-76.
22. Algar E, Brickell S, Deeble G, Amor D, Smith P. Analysis of CDKN1C in Beckwith Wiedemann syndrome. Hum Mutat 2000;15:497-508.
23. Romanelli V, Belinchon A, Benito-Sanz S, Martinez-Glez V, Gracia-Bouthelier R, Heath KE, Campos-Barros A, Garcia-Minaur S, Fernandez L, Meneses H, Lopez-Siguero JP, Guillen-Navarro E, Gomez-Puertas P, Wesselink JJ, Mercado G, Esteban-Marfil V, Palomo R, Mena R, Sanchez A, Del Campo M, Lapunzina P. CDKN1C (p57(Kip2)) analysis in Beckwith-Wiedemann syndrome (BWS) patients: Genotype-phenotype correlations, novel mutations, and polymorphisms. Am J Med Genet A 2010;152A:1390-7.
24. Kantaputra PN, Sittiwangkul R, Sonsuwan N, Romanelli V, Tenorio J, Lapunzina P. A novel mutation in CDKN1C in sibs with Beckwith-Wiedemann syndrome and cleft palate, sensorineural hearing loss, and supernumerary flexion creases. Am J Med Genet A 2012;161:192-7.
25. Bhuiyan ZA, Yatsuki H, Sasaguri T, Joh K, Soejima H, Zhu X, Hatada I, Morisaki H, Morisaki T, Mukai T. Functional analysis of the p57KIP2 gene mutation in Beckwith-Wiedemann syndrome. Hum Genet 1999;104:205-10.
26. Yan Y, Frisen J, Lee MH, Massague J, Barbacid M. Ablation of the CDK inhibitor p57Kip2 results in increased apoptosis and delayed differentiation during mouse development. Genes Dev 1997;11:973-83.
27. Zhang P, Liegeois NJ, Wong C, Finegold M, Hou H, Thompson JC, Silverman A, Harper JW, DePinho RA, Elledge SJ. Altered cell differentiation and proliferation in mice lacking p57KIP2 indicates a role in Beckwith-Wiedemann syndrome. Nature 1997;387:151-8.
28. Lee MH, Reynisdottir I, Massague J. Cloning of p57KIP2, a cyclin-dependent kinase inhibitor with unique domain structure and tissue distribution. Genes Dev 1995;9:639-49.
29. Matsuoka S, Edwards MC, Bai C, Parker S, Zhang P, Baldini A, Harper JW, Elledge SJ. p57KIP2, a structurally distinct member of the p21CIP1 Cdk inhibitor family, is a candidate tumor suppressor gene. Genes Dev 1995;9:650-62.
30. Moldovan GL, Pfander B, Jentsch S. PCNA, the maestro of the replication fork. Cell 2007;129:665-79.
31. Arboleda VA, Lee H, Parnaik R, Fleming A, Banerjee A, Ferraz-de-Souza B, Delot EC, Rodriguez-Fernandez IA, Braslavsky D, Bergada I, Dell'angelica EC, Nelson SF, Martinez-Agosto JA, Achermann JC, Vilain E. Mutations in the PCNA-binding domain of CDKN1C cause IMAGe syndrome. Nat Genet 2012;44:788-92.
32. Vilain E, Le Merrer M, Lecointre C, Desangles F, Kay MA, Maroteaux P, McCabe ER. IMAGe, a new clinical association of intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies. J Clin Endocrinol Metab 1999;84:4335-40.
33. Balasubramanian M, Sprigg A, Johnson DS. IMAGe syndrome: Case report with a previously unreported feature and review of published literature. Am J Med Genet A 2010;152A:3138-42.
34. Azzi S, Steunou V, Rousseau A, Rossignol S, Thibaud N, Danton F, Le Jule M, Gicquel C, Le Bouc Y, Netchine I. Allele-specific methylated multiplex real-time quantitative PCR (ASMM RTQ-PCR), a powerful method for diagnosing loss of imprinting of the 11p15 region in Russell Silver and Beckwith Wiedemann syndromes. Hum Mutat 2011;32:249-58.
35. Gaston V, Le Bouc Y, Soupre V, Vazquez MP, Gicquel C. Assessment of p57(KIP2) gene mutation in Beckwith-Wiedemann syndrome. Horm Res 2000;54:1-5.
36. Cohen MM Jr. Macroglossia, omphalocele, visceromegaly, cytomegaly of the adrenal cortex and neonatal hypoglycemia. Birth Defects Orig Artic Ser 1971;7:226-32.