Silver-Russell syndrome

Wakeling, Emma

doi:10.1136/adc.2010.190165

Cited by 55 publications

(54 citation statements)

References 30 publications

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“…The best known example of a growth disorder associated with an imprinting disorder is the Silver-Russell syndrome, which is most commonly caused by hypomethylation of an imprinting control region on the paternal allele of chromosome 11p15.5, controlling the methylation of the IGF2 and H19 genes (219). However, also multilocus loss-of-methylation can occur (220,221). Other genetic causes include uniparental (maternal) disomy of chromosome 7 (UPD7) (79) and a mutation in the paternally imprinted gene CDKN1C (222).…”

Section: Imprinting Disorders and Uniparental Disomymentioning

confidence: 99%

MECHANISMS IN ENDOCRINOLOGY: Novel genetic causes of short stature

Wit

Oostdijk

Losekoot

et al. 2016

European Journal of Endocrinology

154

132

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The fast technological development, particularly single nucleotide polymorphism array, array-comparative genomic hybridization, and whole exome sequencing, has led to the discovery of many novel genetic causes of growth failure. In this review we discuss a selection of these, according to a diagnostic classification centred on the epiphyseal growth plate. We successively discuss disorders in hormone signalling, paracrine factors, matrix molecules, intracellular pathways, and fundamental cellular processes, followed by chromosomal aberrations including copy number variants (CNVs) and imprinting disorders associated with short stature. Many novel causes of GH deficiency (GHD) as part of combined pituitary hormone deficiency have been uncovered. The most frequent genetic causes of isolated GHD are GH1 and GHRHR defects, but several novel causes have recently been found, such as GHSR, RNPC3, and IFT172 mutations. Besides well-defined causes of GH insensitivity (GHR, STAT5B, IGFALS, IGF1 defects), disorders of NFkB signalling, STAT3 and IGF2 have recently been discovered. Heterozygous IGF1R defects are a relatively frequent cause of prenatal and postnatal growth retardation. TRHA mutations cause a syndromic form of short stature with elevated T 3 /T 4 ratio. Disorders of signalling of various paracrine factors (FGFs, BMPs, WNTs, PTHrP/IHH, and CNP/NPR2) or genetic defects affecting cartilage extracellular matrix usually cause disproportionate short stature. Heterozygous NPR2 or SHOX defects may be found in w3% of short children, and also rasopathies (e.g., Noonan syndrome) can be found in children without clear syndromic appearance. Numerous other syndromes associated with short stature are caused by genetic defects in fundamental cellular processes, chromosomal abnormalities, CNVs, and imprinting disorders.

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Section: Imprinting Disorders and Uniparental Disomymentioning

confidence: 99%

MECHANISMS IN ENDOCRINOLOGY: Novel genetic causes of short stature

Wit

Oostdijk

Losekoot

et al. 2016

European Journal of Endocrinology

154

132

View full text Add to dashboard Cite

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“…However, the diagnosis of SRS can be difficult, as the condition varies widely in severity among affected individuals and many of its features are nonspecific [4][5][6] . Until now, no consensus has been reached on the clinical definition of SRS.…”

Section: Correspondence To Elw and I N Ewakeling@nhsnet; Irenementioning

confidence: 99%

“…, Edith Said 32,33 , Meropi Toumba 34,35 , Zeynep Tümer 20 , Gerhard Binder 36 , Thomas Eggermann 18 , Madeleine D. Harbison 37 , I. Karen Temple 5,6 , Deborah J. G. Mackay 5 and Irène Netchine [2][3][4] Abstract | This Consensus Statement summarizes recommendations for clinical diagnosis, investigation and management of patients with Silver-Russell syndrome (SRS), an imprinting disorder that causes prenatal and postnatal growth retardation. Considerable overlap exists between the care of individuals born small for gestational age and those with SRS.…”

mentioning

confidence: 99%

Diagnosis and management of Silver–Russell syndrome: first international consensus statement

et al. 2016

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“…Different authors have shown that patients with mUPD7 have a milder phenotype in comparison with the cases of methylation abnormalities of the 11p15.5 region [Hannula et al, 2001a;Wakeling et al, 2010;Wakeling, 2011]. Severe feeding difficulties, speech delay and excessive sweating were common, but typical facial features and asymmetry were observed less frequently .…”

Section: Clinical Symptoms and Diagnostic Criteria For Srsmentioning

confidence: 99%

“…In ∼ 30-40% of all cases with an SRS phenotype, the underlying molecular defect remains presently unknown and diagnosis is purely clinical [Binder et al, 2008;Wakeling, 2011;Azzi et al, 2015].…”

Section: Molecular Basis For Srsmentioning

confidence: 99%

Silver-Russell Syndrome and Beckwith-Wiedemann Syndrome: Opposite Phenotypes with Heterogeneous Molecular Etiology

Õunap

2016

Mol Syndromol

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Silver-Russell syndrome (SRS) and Beckwith-Wiedemann syndrome (BWS) are 2 clinically opposite growth-affecting disorders belonging to the group of congenital imprinting disorders. The expression of both syndromes usually depends on the parental origin of the chromosome in which the imprinted genes reside. SRS is characterized by severe intrauterine and postnatal growth retardation with various additional clinical features such as hemihypertrophy, relative macrocephaly, fifth finger clinodactyly, and triangular facies. BWS is an overgrowth syndrome with many additional clinical features such as macroglossia, organomegaly, and an increased risk of childhood tumors. Both SRS and BWS are clinically and genetically heterogeneous, and for clinical diagnosis, different diagnostic scoring systems have been developed. Six diagnostic scoring systems for SRS and 4 for BWS have been previously published. However, neither syndrome has common consensus diagnostic criteria yet. Most cases of SRS and BWS are associated with opposite epigenetic or genetic abnormalities in the 11p15 chromosomal region leading to opposite imbalances in the expression of imprinted genes. SRS is also caused by maternal uniparental disomy 7, which is usually identified in 5-10% of the cases, and is therefore the first imprinting disorder that affects 2 different chromosomes. In this review, we describe in detail the clinical diagnostic criteria and scoring systems as well as molecular causes in both SRS and BWS.

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Silver-Russell syndrome

Cited by 55 publications

References 30 publications

MECHANISMS IN ENDOCRINOLOGY: Novel genetic causes of short stature

MECHANISMS IN ENDOCRINOLOGY: Novel genetic causes of short stature

Diagnosis and management of Silver–Russell syndrome: first international consensus statement

Silver-Russell Syndrome and Beckwith-Wiedemann Syndrome: Opposite Phenotypes with Heterogeneous Molecular Etiology

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