scholarly journals Silver-Russell syndrome

2016 ◽  
Vol 6 (2) ◽  
pp. 175
Author(s):  
Shohela Akhter ◽  
Mohammad Lmnul Islam ◽  
Hafiz Al Mamun ◽  
Shahana A. Rahman
Keyword(s):  
Growth Failure ◽  
Chromosome 7 ◽  
Facial Features ◽  
Facial Profile ◽  
Predominant Symptom ◽  
Silver Russell Syndrome

Silver-Russell syndrome is clinically and genetically a heterogeneous disorder. In most of the cases, etiology is unknown, only in 10% cases defect in chromosome 7 is identified. It bas distinctive facial features and asymmetric limbs. Most predominant symptom is growth failure. A case of Silver-Russell syndrome reported here who presented with growth failure, hemihypertrophy ofleft side oftbe body, dysmorphic facial profile and difficulty in speech. Counseling was done with the parents regarding the etiology, progression and outcome of the disease.

Case report of a Rare Cause of Portal Hypertension

2021 ◽  
Vol 3 (6) ◽  
pp. 01-03
Author(s):  
Mra Aye
Keyword(s):  
Nervous System ◽  
Case Report ◽  
Portal Hypertension ◽  
Genetic Architecture ◽  
Developmental Disorder ◽  
Chromosome 7 ◽  
Morbidity And Mortality ◽  
Facial Features ◽  
System Involvement ◽  
William Syndrome

Williams or Williams-Beuren (WBS) is a developmental disorder with multisystemic manifestations. Chromosome 7 microdeletion underlying WBS occurs because of the unique genetic architecture in this region. Facial features change from subtle to dramatic. The extent of mental and development problems is variable. Cardiovascular, endocrine, and nervous system involvement mostly affect the morbidity and mortality. Although many systems are involved in this syndrome, portal hypertension and splenomegaly are scarcely reported. We report a case of William syndrome with moderate splenomegaly and portal hypertension.

Post-receptor IGF1 insensitivity restricted to the MAPK pathway in a Silver–Russell syndrome patient with hypomethylation at the imprinting control region on chromosome 11

2012 ◽  
Vol 166 (3) ◽  
pp. 543-550 ◽  
Author(s):  
Luciana R Montenegro ◽  
Andrea C Leal ◽  
Debora C Coutinho ◽  
Helena P L Valassi ◽  
Mirian Y Nishi ◽  
...  
Keyword(s):  
Mapk Pathway ◽  
Growth Failure ◽  
Postnatal Growth ◽  
Chromosome 11 ◽  
Gene Expressions ◽  
Gh Treatment ◽  
Poor Growth ◽  
Mapk Activation ◽  
Silver Russell Syndrome

BackgroundHypomethylation of the paternal imprinting center region 1 (ICR1) is the most frequent molecular cause of Silver–Russell syndrome (SRS). Clinical evidence suggests that patients with this epimutation have mild IGF1 insensitivity.ObjectiveTo assess in vitro IGF1 action in fibroblast culture from a patient with SRS and IGF1 insensitivity.MethodsFibroblast cultures from one patient with SRS due to ICR1 demethylation and controls were established. The SRS patient has severe growth failure, elevated IGF1 level, and poor growth rate during human recombinant GH treatment. IGF1 action was assessed by cell proliferation, AKT, and p42/44-MAPK phosphorylation. Gene expression was determined by real-time PCR.ResultsDespite normal IGF1R sequence and expression, fibroblast proliferation induced by IGF1 was 50% lower in SRS fibroblasts in comparison with controls. IGF1 and insulin promoted a p42/44-MAPK activation in SRS fibroblasts 40 and 36%, respectively, lower than that in control fibroblasts. On the other hand, p42/44-MAPK activation induced by EGF stimulation was only slightly reduced (75% in SRS fibroblasts in comparison with control), suggesting a general impairment in MAPK pathway with a greater impairment of the stimulation induced by insulin and IGF1 than by EGF. A PCR array analysis disclosed a defect in MAPK pathway characterized by an increase in DUSP4 and MEF2C gene expressions in patient fibroblasts.ConclusionA post-receptor IGF1 insensitivity was characterized in one patient with SRS and ICR1 hypomethylation. Although based on one unique severely affected patient, these results raise an intriguing mechanism to explain the postnatal growth impairment observed in SRS patients that needs confirmation in larger cohorts.

scholarly journals Cystic fibrosis and Silver-Russell syndrome due to a partial maternal isodisomy of chromosome 7

2017 ◽  
Vol 5 (10) ◽  
pp. 1697-1700 ◽  
Author(s):  
Lonneke C. Gerbrands ◽  
Eric G. Haarman ◽  
Margot A. Hankel ◽  
Martijn J. J. Finken
Keyword(s):  
Cystic Fibrosis ◽  
Chromosome 7 ◽  
Silver Russell Syndrome

Maternal chromosome 7 hetero/isodisomy in Silver-Russell syndrome and PEG1 biallelic expression

2000 ◽  
Vol 9 (3) ◽  
pp. 157-162 ◽  
Author(s):  
S. Russo ◽  
M. F. Bedeschi ◽  
F. Cogliati ◽  
F. Natacci ◽  
A. Gianotti ◽  
...  
Keyword(s):  
Chromosome 7 ◽  
Biallelic Expression ◽  
Maternal Chromosome ◽  
Silver Russell Syndrome

scholarly journals Prenatal and postnatal growth failure associated with maternal heterodisomy for chromosome 7.

1995 ◽  
Vol 32 (11) ◽  
pp. 871-875 ◽  
Author(s):  
S Langlois ◽  
S L Yong ◽  
R D Wilson ◽  
L C Kwong ◽  
D K Kalousek
Keyword(s):  
Growth Failure ◽  
Postnatal Growth ◽  
Chromosome 7 ◽  
Postnatal Growth Failure

scholarly journals Partial deletion of the long arm of chromosome 7: a case report

Open Medicine ◽  
2018 ◽  
Vol 13 (1) ◽  
pp. 433-435 ◽  
Author(s):  
Chun Zhu ◽  
Mei-Ling Tong ◽  
Xia Chi
Keyword(s):  
Mental Retardation ◽  
Case Report ◽  
Bone Age ◽  
Chromosome 7 ◽  
Facial Features ◽  
Mild Mental Retardation ◽  
Partial Deletion ◽  
Nasal Bridge ◽  
Case Presentations ◽  
Broad Nasal Bridge

AbstractStudy advances with a childhood case of partial deletion of the long arm of chromosome 7. The patient is a 36-month-old girl with growth retardation, mild mental retardation and delayed bone age. She showed no signs of hypotelorism, upslanting palpebral fissures, epicanthal folds, low-set ears, or flat and broad nasal bridge. Microarray testing using the Affymetrix CytoScan HD array revealed an approximately 58 kb deletion at 7q31.1 in the girl and her father, suggesting paternal origin. As the patient had no characteristic facial features, 7q deletions had not been considered. This case broadens the range of case presentations for microdeletions of chromosome 7.

scholarly journals Multiple Segmental Uniparental Disomy Associated with Abnormal DNA Methylation of Imprinted Loci in Silver-Russell Syndrome

2012 ◽  
Vol 97 (11) ◽  
pp. E2188-E2193 ◽  
Author(s):  
Renuka P. Dias ◽  
Irina Bogdarina ◽  
Jean-Baptiste Cazier ◽  
Charles Buchanan ◽  
Malcolm C. Donaldson ◽  
...  
Keyword(s):  
Dna Methylation ◽  
Mrna Expression ◽  
Single Nucleotide Polymorphism Array ◽  
Uniparental Disomy ◽  
Postnatal Growth ◽  
Chromosome 7 ◽  
Imprinted Genes ◽  
Methylation Array ◽  
Maternal Uniparental Disomy ◽  
Silver Russell Syndrome

Background: Silver-Russell syndrome (SRS; online inheritance in man 180860) is a low-birth-weight syndrome characterized by postnatal growth restriction and variable dysmorphic features. Although maternal uniparental disomy (UPD) of chromosome 7 and hypomethylation of H19 have been reported in up to 50% of all cases, no unifying mechanism is apparent. Subjects and Methods: Ten patients and their parents were studied using the Illumina GoldenGate methylation array and the Illumina 370K HumHap single-nucleotide polymorphism array to identify aberrations in DNA methylation as well as genomic changes including copy number changes and uniparental disomy events. Results: We found evidence of UPD events outside chromosome 7 in all patients. In up to 30% of patients with SRS, DNA methylation changes occur in imprinted gene loci outside 11p15.5 (PEG3, PLAGL1, and GRB10), not previously consistently linked with SRS. Furthermore, hypermethylation of GRB10 was associated with increased mRNA expression. In addition, 20% of patients appear to have DNA methylation abnormalities within multiple loci. Not all the imprinted loci with methylation defects were affected directly by UPD. Conclusions: The association of widespread UPD associated with abnormal methylation and mRNA expression in imprinted genes in SRS is consistent with the concept of UPD as an initial genomic abnormality leading to unstable DNA methylation within the regulatory network of imprinted genes. Furthermore, disruption of any one of these genes may contribute to the heterogeneous clinical spectrum of SRS.

scholarly journals Experiences of adolescents living with Silver-Russell syndrome

2021 ◽  
pp. archdischild-2020-321376
Author(s):  
Lisa Marie Ballard ◽  
Elizabeth Jenkinson ◽  
Christopher D Byrne ◽  
Jenny C Child ◽  
Hazel Inskip ◽  
...  
Keyword(s):  
Lived Experience ◽  
Qualitative Interviews ◽  
Adult Life ◽  
Growth Failure ◽  
Structured Interviews ◽  
Pain Disability ◽  
Psychosocial Challenges ◽  
Anticipated Stigma ◽  
The Uk ◽  
Silver Russell Syndrome

ObjectiveThe psychosocial impact of growing up with Silver-Russell syndrome (SRS), characterised by growth failure and short stature in adulthood, has been explored in adults; however, there are no accounts of contemporary lived experience in adolescents. Such data could inform current healthcare guidance and transition to adult services. We aimed to explore the lived experience of adolescents with SRS.Design/setting/patientsIn-depth, semi-structured interviews were conducted between January 2015 and October 2016 with a sample of eight adolescents aged 13–18 (five girls) with genetically confirmed SRS from the UK. Qualitative interviews were transcribed and coded to identify similarities and differences using thematic analysis; codes were then grouped to form overarching themes.ResultsWe identified four themes from the interview data: (1) the psychosocial challenges of feeling and looking different; (2) pain, disability and fatigue; (3) anticipated stigma; and (4) building resilience and acceptance. Despite adolescents accepting SRS in their lives, they described ongoing psychosocial challenges and anticipated greater problems to come, such as stigma from prospective employers.ConclusionsAdolescents with SRS may experience psychosocial difficulties from as young as 10 years old related to feeling and looking different; pain, disability and fatigue; anticipated stigma; and future challenges around employment. We discuss these findings in relation to recommendations for the care of adolescents with SRS to prepare them for adult life.

scholarly journals Molecular and clinical analyses of two patients with UPD(16)mat detected by screening 94 patients with Silver-Russell syndrome phenotype of unknown aetiology

2018 ◽  
Vol 56 (6) ◽  
pp. 413-418 ◽  
Author(s):  
Takanobu Inoue ◽  
Hideaki Yagasaki ◽  
Junko Nishioka ◽  
Akie Nakamura ◽  
Keiko Matsubara ◽  
...  
Keyword(s):  
Snp Array ◽  
Uniparental Disomy ◽  
Gene Mutations ◽  
Growth Failure ◽  
Postnatal Growth ◽  
Differentially Methylated Region ◽  
Unknown Aetiology ◽  
Chromosome 16 ◽  
Maternal Uniparental Disomy ◽  
Silver Russell Syndrome

BackgroundRecently, a patient with maternal uniparental disomy of chromosome 16 (UPD(16)mat) presenting with Silver-Russell syndrome (SRS) phenotype was reported. SRS is characterised by growth failure and dysmorphic features.ObjectiveTo clarify the prevalence of UPD(16)mat in aetiology-unknown patients with SRS phenotype and phenotypic differences between UPD(16)mat and SRS.MethodsWe studied 94 patients with SRS phenotype of unknown aetiology. Sixty-three satisfied the Netchine-Harbison clinical scoring system (NH-CSS) criteria, and 25 out of 63 patients showed both protruding forehead and relative macrocephaly (clinical SRS). The remaining 31 patients met only three NH-CSS criteria, but were clinically suspected as having SRS. To detect UPD(16)mat, we performed methylation analysis for the ZNF597:TSS-differentially methylated region (DMR) on chromosome 16 and subsequently performed microsatellite, SNP array and exome analyses in the patients with hypomethylated ZNF597:TSS-DMR.ResultsWe identified two patients (2.1%) with a mixture of maternal isodisomy and heterodisomy of chromosome 16 in 94 aetiology-unknown patients with SRS phenotype. Both patients exhibited preterm birth and prenatal and postnatal growth failure. The male patient had ventricular septal defect and hypospadias. Whole-exome sequencing detected no gene mutations related to their phenotypes.ConclusionWe suggest considering genetic testing for UPD(16)mat in SRS phenotypic patients without known aetiology.

Sign in / Sign up

Export Citation Format

Share Document