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Epimutation of the telomeric imprinting center region on chromosome 11p15 in Silver-Russell syndrome
TLDR
Findings provide new insight into the pathogenesis of SRS and strongly suggest that the 11p15 imprinted region, in addition to those of 7p11.2-p13 and 7q31-qter, is involved in SRS.
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A prospective study validating a clinical scoring system and demonstrating phenotypical-genotypical correlations in Silver-Russell syndrome
TLDR
This new scoring system is very sensitive for the detection of patients with SRS with demonstrated molecular abnormalities, given its clinical and molecular heterogeneity, SRS could be considered as a spectrum.
View on BMJ
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.
TLDR
The 11p15 ICR1 epimutation is a major, specific cause of RSS exhibiting failure to thrive, and a clinical scoring system is proposed (including a BMI < -2 SDS), highly predictive of 11p 15 I CR1 LOM, for the diagnosis of RSS.
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Diagnosis and management of Silver–Russell syndrome: first international consensus statement
This Consensus Statement summarizes recommendations for clinical diagnosis, investigation and management of patients with Silver–Russell syndrome (SRS), an imprinting disorder that causes prenatal…
View on Wolters Kluwer
Mutations in LHX3 result in a new syndrome revealed by combined pituitary hormone deficiency
TLDR
A homozygous LHX3 defect is identified in patients of two unrelated consanguineous families displaying a complete deficit in all but one anterior pituitary hormone and a rigid cervical spine leading to limited head rotation.
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Multilocus methylation analysis in a large cohort of 11p15-related foetal growth disorders (Russell Silver and Beckwith Wiedemann syndromes) reveals simultaneous loss of methylation at paternal and…
TLDR
The results show for the first time that multilocus LOM can also concern RSS patients, and can involve both paternally and maternally methylated loci in the same patient.
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Beckwith-Wiedemann Syndrome: Growth Pattern and Tumor Risk according to Molecular Mechanism, and Guidelines for Tumor Surveillance
Background: Beckwith-Wiedemann syndrome (BWS) is an overgrowth syndrome associated with an increased risk of pediatric tumors. The underlying molecular abnormalities may be genetic (CDKN1C mutations…
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Expert consensus document: Clinical and molecular diagnosis, screening and management of Beckwith–Wiedemann syndrome: an international consensus statement
TLDR
An international consensus group agreed upon 72 recommendations for the clinical and molecular diagnosis and management of Beckwith–Wiedemann syndrome, including comprehensive protocols for the molecular investigation, care and treatment of patients from the prenatal period to adulthood.
View on Nature
Syndromic short stature in patients with a germline mutation in the LIM homeobox LHX4.
TLDR
The findings, which elucidate the molecular basis of a complex Mendelian disorder, reveal the fundamental pleiotropic role played by a single factor that tightly coordinates brain development and skull shaping during head morphogenesis.
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CDKN1C mutation affecting the PCNA-binding domain as a cause of familial Russell Silver syndrome
TLDR
Functional analysis showed that Arg279Leu (RSS) did not affect the cell cycle, whereas the Arg279Pro mutation (IMAGe) led to an increased stability which could explain an increased activity of CDKN1C.
View on BMJ
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