Silver-Russell syndrome due to a point mutation

MedGen UID:: 1843388
•Concept ID:: C5681157
•: Disease or Syndrome

Modes of inheritance:	Autosomal dominant inheritance MedGen UID: 141047 •Concept ID: C0443147 • Intellectual Product Source: Orphanet A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele. Autosomal dominant inheritance (Orphanet)

Orphanet:	ORPHA397590

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GTR
MeSH

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVSilver-Russell syndrome due to a point mutation

Phenotypic abnormality
- Abnormality of prenatal development or birth
  - Fetal anomaly
    - Congenital chromosomal disease
      - Russell-Silver syndrome
        Silver-Russell syndrome due to a point mutation

Recent clinical studies

Etiology

(Epi)mutations in 11p15 significantly contribute to Silver-Russell syndrome: but are they generally involved in growth retardation?

Schönherr N, Meyer E, Eggermann K, Ranke MB, Wollmann HA, Eggermann T
Eur J Med Genet 2006 Sep-Oct;49(5):414-8. Epub 2006 Mar 29 doi: 10.1016/j.ejmg.2006.03.001. PMID: 16603426

Screening for insulin-like growth factor-I receptor mutations in patients with Silver-Russell syndrome.

Binder G, Mavridou K, Wollmann HA, Eggermann T, Ranke MB
J Pediatr Endocrinol Metab 2002 Sep-Oct;15(8):1167-71. doi: 10.1515/jpem.2002.15.8.1167. PMID: 12387515

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Diagnosis

A case report and review of the literature indicate that HMGA2 should be added as a disease gene for Silver-Russell syndrome.

Leszinski GS, Warncke K, Hoefele J, Wagner M
Gene 2018 Jul 15;663:110-114. Epub 2018 Apr 12 doi: 10.1016/j.gene.2018.04.027. PMID: 29655892

CDKN1C mutations: two sides of the same coin.

Eggermann T, Binder G, Brioude F, Maher ER, Lapunzina P, Cubellis MV, Bergadá I, Prawitt D, Begemann M
Trends Mol Med 2014 Nov;20(11):614-22. Epub 2014 Sep 25 doi: 10.1016/j.molmed.2014.09.001. PMID: 25262539

A novel de novo point mutation of the OCT-binding site in the IGF2/H19-imprinting control region in a Beckwith-Wiedemann syndrome patient.

Higashimoto K, Jozaki K, Kosho T, Matsubara K, Fuke T, Yamada D, Yatsuki H, Maeda T, Ohtsuka Y, Nishioka K, Joh K, Koseki H, Ogata T, Soejima H
Clin Genet 2014 Dec;86(6):539-44. Epub 2013 Dec 4 doi: 10.1111/cge.12318. PMID: 24299031

Beckwith-Wiedemann syndrome caused by maternally inherited mutation of an OCT-binding motif in the IGF2/H19-imprinting control region, ICR1.

Poole RL, Leith DJ, Docherty LE, Shmela ME, Gicquel C, Splitt M, Temple IK, Mackay DJ
Eur J Hum Genet 2012 Feb;20(2):240-3. Epub 2011 Aug 24 doi: 10.1038/ejhg.2011.166. PMID: 21863054 Free PMC Article

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Silver-Russell syndrome due to a point mutation

Term Hierarchy

Recent clinical studies

Etiology

Diagnosis

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