Clinical characteristics and chromosome 11p15 imprinting analysis of Silver-Russell syndrome – a Chinese experience
-
Di Wu
,
Huyong Zheng
,
Paul Saenger
Abstract
Background: Silver-Russell syndrome (SRS) is an imprinting defect disease. This is the first study of Chinese children with SRS caused by chromosome 11p15 imprinting defects.
Methods: Twenty-five SRS cases, diagnosed in Beijing Children’s Hospital from 2006 to 2012, were studied retrospectively to detect chromosome 11p15 imprinting defects.
Results: Over 80% of the children had (i) small for gestational age and postnatal growth retardation (mean height standard deviation score [HT SDS] was –3.56), (ii) mean body mass index (BMI) SDS was –2.10, and (iii) skeletal malformation. Chromosome 11p15 imprinting defects were examined in 16 of the 25 patients. Six had hypomethylation in chromosome 11p15 imprinting control region 1 (ICR1) of the paternal allele; one had hypomethylation in chromosome 11p15 ICR1 and hypermethylation in imprinting control region 2 (ICR2). Another patient had a duplicated maternal chromosome 11p15 fragment. Six patients had been treated with for 3–24 months. Growth rates ranged from 4 to 10.8 cm/year.
Conclusions: This study demonstrated that Chinese children with SRS had more growth retardation than bone retardation, severely low levels of BMI, triangular faces, and limb asymmetry. Chromosome 11p15 imprinting defects contributed to 50% of these cases, and ICR1 hypomethylation was associated with asymmetry.
Conflict of interest statement
Authors’ conflict of interest disclosure:
The authors declared that there is no conflict of interest for this work.
Source of funding:
This study was supported in part by grants from the Chinese GeneScience Pharmaceutical Co., Ltd. fund, which was established by the publisher of The Chinese Practical Pediatrics and the Chinese GeneScience Pharmaceutical Co., Ltd. Support also came from the Basic and Clinical Research Fund of Capital Medical University.
References
1. Eggermann T, Spengler S, Gogiel M, Begemann M, Elbracht M. Epigenetic and genetic diagnosis of Silver-Russell syndrome. Expert Rev Mol Diagn 2012;12:459–71.10.1586/erm.12.43Search in Google Scholar PubMed
2. Wakeling EL. Silver Russell syndrome. Arch Dis Child 2011;96:1156–61.10.1136/adc.2010.190165Search in Google Scholar PubMed
3. De Crescenzo A, Sparago A, Cerrato F, Palumbo O, Carella M, et al. 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;50:99–103.10.1136/jmedgenet-2012-101352Search in Google Scholar PubMed PubMed Central
4. Ishida M, Moore GE. The role of imprinted genes in humans. Mol Aspects Med Mol Aspects Med 2013;34:826–40.10.1016/j.mam.2012.06.009Search in Google Scholar PubMed
5. Sheridan MB, Bytyci Telegrafi A, Stinnett V, Umeh CC, Mari Z, et al. Myoclonus-dystonia and Silver-Russell syndrome resulting from maternal uniparental disomy of chromosome 7. Clin Genet 2013;84:368–72.10.1111/cge.12075Search in Google Scholar PubMed PubMed Central
6. Bruce S, Hannula-Jouppi K, Peltonen J, Kere J, Lipsanen-Nyman M. Clinically distinct epigenetic subgroups in Silver-Russell syndrome: the degree of H19 hypomethylation associates with phenotype severity and genital and skeletal anomalies. J Clin Endocrinol Metab 2009;94:579–87.10.1210/jc.2008-1805Search in Google Scholar PubMed
7. Bruce S, Hannula-Jouppi K, Puoskari M, Fransson I, Simola KO, et al. Submicroscopic genomic alterations in Silver-Russell syndrome and Silver-Russell-like patients. J Med Genet 2010;47:816–22.10.1136/jmg.2009.069427Search in Google Scholar PubMed
8. Spengler S, Schönherr N, Binder G, Wollmann HA, Fricke-Otto S, et al. Submicroscopic chromosomal imbalances in idiopathic Silver-Russell syndrome (SRS): the SRS phenotype overlaps with the 12q14 microdeletion syndrome. J Med Genet 2010;47: 356–60.10.1136/jmg.2009.070052Search in Google Scholar PubMed
9. Deng HL. Russell-Silver syndrome and congenital hip dislocation (case report). J Clin Pediatr 1987;5:230.Search in Google Scholar
10. Qiu BP, Huang SK, Chen CY. Case report of Russell-Silver syndrome. Chin J Pediatr 2006;44:147.Search in Google Scholar
11. Wang YH, Zhou LN. Case report of Russell-Silver syndrome. Chin J Contemp Pediatr 2008;10:757–8.Search in Google Scholar
12. Wong KF, Wong WW, Li BX, Song YZ. The first case of Silver-Russell syndrome accompanied by linea alba hernia in China. Singapore Med J 2010;51:e9–11.Search in Google Scholar
13. Priolo M, Sparago A, Mammì C, Cerrato F, Laganà C, et al. MS-MLPA is a specific and sensitive technique for detecting all chromosome 11p15. 5 imprinting defects of BWS and SRS in a single-tube experiment. Eur J Hum Genet 2008;16:565–71.10.1038/sj.ejhg.5202001Search in Google Scholar PubMed
14. Scott RH, Douglas J, Baskcomb L, Nygren AO, Birch JM, et al. Methylation-specific multiplex ligation-dependent probe amplification (MS-MLPA) robustly detects and distinguishes 11p15 abnormalities associated with overgrowth and growth retardation. J Med Genet 2008;45:106–13.10.1136/jmg.2007.053207Search in Google Scholar PubMed
15. Lai KY, Skuse D, Stanhope R, Hindmersh P. Cognitive abilities associated with the Silver-Russell syndrome. Arch Dis Child 1994;71:490–6.10.1136/adc.71.6.490Search in Google Scholar PubMed PubMed Central
16. Price SM, Stanhope R, Garrett C, Preece MA, Trembath RC. The spectrum of Silver-Russell syndrome: a clinical and molecular genetic study and new diagnostic criteria. J Med Genet 1999;36:837–42.Search in Google Scholar
17. Netchine I, Rossignol S, Dufourg MN, Azzi S, Rousseau A, et al. 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;92:3148–54.10.1210/jc.2007-0354Search in Google Scholar PubMed
18. Bartholdi D, Krajewska-Walasek M, Ounap K, Gaspar H, Chrzanowska KH, et al. Epigenetic mutations of the imprinted IGF2-H19 domain in Silver-Russell syndrome (SRS): results from a large cohort of patients with SRS and SRS-like phenotypes. J Med Genet 2009;46:192–7.10.1136/jmg.2008.061820Search in Google Scholar PubMed
19. Silver HK, Kiyasu W, George J, Deamer WC. Syndrome of congenital hemihypertrophy, shortness of stature, and elevated urinary gonadotropins. Pediatrics 1953;12:368–76.10.1542/peds.12.4.368Search in Google Scholar
20. Russell A. A syndrome of intra-uterine dwarfism recognizable at birth with cranio-facial dysostosis, disproportionately short arms and other anomalies. Proc R Soc Med 1954;47:1040–4.Search in Google Scholar
21. Wollmann HA, Kirchner T, Enders H, Preece MA, Ranke MB. Growth and symptoms in Silver-Russell syndrome: review on the basis of 386 patients. Eur J Pediatr 1995;154:958–68.10.1007/BF01958638Search in Google Scholar PubMed
22. Mascarenhas JV, Ayyar VS. Russell Silver syndrome: a perspective on growth and the influence of growth hormone therapy. Indian J Endocrinol Metab 2012;16:840–2.10.4103/2230-8210.100675Search in Google Scholar PubMed PubMed Central
23. Beserra IC, Ribeiro MG, Collett-Solberg PF, Vaisman M, Guimarães MM. IGF-I and IGF binding protein-3 generation tests and response to growth hormone in children with Silver-Russell syndrome. Int J Pediatr Endocrinol 2010;2010:546854.10.1186/1687-9856-2010-546854Search in Google Scholar
24. Ranke M B, Lindberg A. Height at start, first-year growth response and cause of shortness at birth are major determinants of adult height outcomes of short children born small for gestational age and Silver-Russell syndrome treated with growth hormone: analysis of data from KIGS. Horm Res Paediatr 2010;74:259–66.10.1159/000289570Search in Google Scholar PubMed
25. Eggermann T, Buiting K, Temple IK. Clinical utility gene card for: Silver–Russell syndrome. Eur J Hum Genet 2011;19.10.1038/ejhg.2010.202Search in Google Scholar PubMed PubMed Central
26. Kotzot D. Maternal uniparental disomy 7 and Silver-Russell syndrome-clinical update and comparison with other subgroups. Eur J Med Genet 2008;51:444–51.10.1016/j.ejmg.2008.06.001Search in Google Scholar PubMed
©2014 by De Gruyter
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- Frontmatter
- Highlight: Cushing syndrome
- Fundamental principles of clinical and biochemical evaluation underlie the diagnosis and therapy of Cushing’s syndrome
- Cushing syndrome secondary to CRH-producing Wilms tumor in a 6 year old
- Cushing’s disease presenting as cholestatic hepatitis
- How early can one diagnose Cushing’s disease? An early diagnosis in a case of prepubertal Cushing’s disease
- Review article
- Subclinical hypothyroidism in childhood and adolescense
- Original articles
- Energy substrate metabolism in pyruvate dehydrogenase complex deficiency
- Chromosome 6q24 transient neonatal diabetes mellitus and protein sensitive hyperinsulinaemic hypoglycaemia
- Measures of pituitary gland and stalk: from neonate to adolescence
- Are preterm newborns who have relative hyperthyrotropinemia at increased risk of brain damage?
- Pseudohypoparathyroidism vs. tricho-rhino-phalangeal syndrome: patient reclassification
- Association of serum 25-hydroxyvitamin D with race/ethnicity and constitutive skin color in urban schoolchildren
- A nonsense thyrotropin receptor gene mutation (R609X) is associated with congenital hypothyroidism and heart defects
- Acanthosis nigricans, vitamin D, and insulin resistance in obese children and adolescents
- Clinical characteristics and chromosome 11p15 imprinting analysis of Silver-Russell syndrome – a Chinese experience
- Change in reference body mass index percentiles and deviation in overweight and obesity over 3 years in Turkish children and adolescents
- Long-term outcomes of pediatric Graves’ disease
- Accessibility of the reference center as a protective factor against ketoacidosis at the onset of diabetes in children
- Vitamin D, parathormone, and insulin resistance in children born large for gestational age
- Prevalence of vitamin D deficiency in apparently healthy children in north India
- Prevalence of autoantibodies in type 1 diabetes patients and its association with the clinical presentation – UAE Eastern Region experience
- Clinical and molecular studies related to bone metabolism in patients with congenital adrenal hyperplasia
- Islet neogenesis-associated protein-related pentadecapeptide improves the function of allograft after islets transplantation
- Anti-Mullerian hormone may be a useful adjunct in the diagnosis of polycystic ovary syndrome in nonobese adolescents
- Early infant feeding practice and childhood obesity: the relation of breast-feeding and timing of solid food introduction with childhood obesity
- Late onset X-linked adrenal hypoplasia congenita with hypogonadotropic hypgonadism due to a novel 4-bp deletion in exon 2 of NR0B1
- The correlation between GnRH stimulation testing and obstetric ultrasonographic parameters in precocious puberty
- The DATAC study: a new growth database. Description of the epidemiology, diagnosis and therapeutic attitude in a group of Spanish children with short stature
- Concentrations of tumour necrosis factor-α and its soluble receptors in the serum of teenagers with atherosclerosis risk factors: obesity or obesity combined with hypertension
- Are HDL levels lower in children with type 1 diabetes and concurrent celiac disease compared with children with type 1 diabetes only?
- Patient reports
- Hereditary vitamin D rickets: a case series in a family
- Two heterozygous mutations of the AMH gene in a Japanese patient with persistent Müllerian duct syndrome
- Two case reports of severe pediatric hyperosmolar hyperglycemia and diabetic ketoacidosis accompanied with rhabdomyolysis and acute renal failure
- Acquired hypothyroidism due to iodine deficiency in an American child
- Continuous subcutaneous IGF-1 therapy via insulin pump in a patient with Donohue syndrome
- Amylase/creatinine clearance ratio in diabetic ketoacidosis: a case report
- Worsening hypertriglyceridemia with oral contraceptive pills in an adolescent with HIV-associated lipodystrophy: a case report and review of the literature
- Congenital hyperinsulinism in a newborn with a novel homozygous mutation (p.Q392H) in the ABCC8 gene
- Short communications
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- Post-hemorrhagic hydrocephalus and diabetes insipidus in preterm infants
- Two novel mutations in acid α-glucosidase gene in two patients with Pompe disease
- Letter to the Editor
- And what about septin 9 (SEPT9) as a binding partner of survivin in heart regeneration?
