On the nosology and pathogenesis of Wolf–Hirschhorn syndrome: Genotype–phenotype correlation analysis of 80 patients and literature review

@article{Zollino2008OnTN,
  title={On the nosology and pathogenesis of Wolf–Hirschhorn syndrome: Genotype–phenotype correlation analysis of 80 patients and literature review},
  author={Marcella Zollino and Marina Murdolo and Giuseppe Marangi and Vanna Pecile and Cinzia Galasso and Laura Mazzanti and Giovanni Neri},
  journal={American Journal of Medical Genetics Part C: Seminars in Medical Genetics},
  year={2008},
  volume={148C}
}
  • M. Zollino, M. Murdolo, +4 authors G. Neri
  • Published 15 November 2008
  • Medicine
  • American Journal of Medical Genetics Part C: Seminars in Medical Genetics
Based on genotype-phenotype correlation analysis of 80 Wolf-Hirschhorn syndrome (WHS) patients, as well as on review of relevant literature, we add further insights to the following aspects of WHS: (1) clinical delineation and phenotypic categories; (2) characterization of the basic genomic defect, mechanisms of origin and familiarity; (3) identification of prognostic factors for mental retardation; (4) chromosome mapping of the distinctive clinical signs, in an effort to identify pathogenic genes. [] Key Result…
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Oral Manifestations of Wolf-Hirschhorn Syndrome: Genotype-Phenotype Correlation Analysis
TLDR
A number of the characteristics of WHS, such as psychomotor delay and epilepsy, are correlated with oral findings such as oligodontia and bruxism, suggesting that some oral-facial candidate genes might be outside the critical WHS region.
Wolf-Hirschhorn Syndrome: Clinical and Genetic Study of 7 New Cases, and Mini Review
TLDR
Renal and brain defects, as well as immunodeficiency are rare manifestations and should be looked for and MLPA is also a reliable screening method.
Diagnosis and fine localization of deletion region in Wolf-Hirschhorn syndrome patients.
TLDR
The prevalence of signs and symptoms, distribution of cases between "mild" and "classic" WHS, and the correlation between length of deletion and severity of disease of these patients were all similar to those of the patients from other populations.
Clinical features in adult patient with Wolf-Hirschhorn syndrome.
Wolf–Hirschhorn syndrome: A review and update
TLDR
The aim is to provide genotype‐specific anticipatory guidance and recommendations to families of individuals with a diagnosis of WHS and establish the molecular underpinnings of the disorder, which will potentially suggest targets for molecular treatments.
Wolf-Hirschhorn Syndrome: Clinical and Genetic Data from a First Case Diagnosed in Central Africa.
TLDR
Clinical and genetic findings of the first WHS patient diagnosed in central Africa, which revealed a terminal 4p16.3 deletion of 3.47 Mb, are reported, contributing to the long survival of this child in a developing country.
Small 4p16.3 deletions: Three additional patients and review of the literature
TLDR
It is predicted that loss‐of‐function mutations affecting NSD2 gene could result in microcephaly, prenatal and postnatal growth retardation, psychomotor and language delay, and craniofacial features, and that mir‐943 could play a role in the pathogenesis of CHD in some of these patients.
Wolf-Hirschhorn Syndrome (WHS), A Case Report and Review of Literature
TLDR
A 4p deletion on chromosome 4 can be associated with subtle chromosome imbalances in other chromosomes and may be undetected in routine cytogenetics, suggesting that this translocation may be more the most frequent translocation after the most common reciprocal translocation in humans, t(11q;22q).
Microarray and FISH‐based genotype–phenotype analysis of 22 Japanese patients with Wolf–Hirschhorn syndrome
TLDR
Clinical and molecular‐cytogenetic findings from a microarray and fluorescence in situ hybridization (FISH)‐based genotype–phenotype analysis of 22 Japanese WHS patients are presented and a new susceptible region for seizure occurrence is suggested.
The Wolf-Hirschhorn Syndrome in Fetal Autopsy - A Case Report -
TLDR
This report pertains to an autopsy case of WHS, of which chromosomal studies were verified by array comparative genomic hybridization (array-CGH) and the length of deletion regions was associated with the specific clinical phenotype.
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References

SHOWING 1-10 OF 47 REFERENCES
Genotype-phenotype correlations and clinical diagnostic criteria in Wolf-Hirschhorn syndrome.
TLDR
A "minimal" Wolf-Hirschhorn syndrome phenotype was inferred, the clinical manifestations of which are restricted to the typical facial appearance, mild mental and growth retardation, and congenital hypotonia.
The etiology of Wolf-Hirschhorn syndrome.
Genotype–phenotype correlation in 21 patients with Wolf–Hirschhorn syndrome using high resolution array comparative genome hybridisation (CGH)
TLDR
The smallest terminal deletion ever reported in a patient with mild WHS stigmata is observed, and the genes causing microcephaly, intrauterine and postnatal growth retardation are positions between 0.3 and 1.4 Mb and further refines the regions causing congenital heart disease, cleft lip and/or palate, oligodontia, and hypospadias.
Wolf-Hirschhorn (4p-) syndrome.
TLDR
It is now evident that individuals with WHS are capable of more acquisition of developmental milestones than previously suggested, and it is therefore very important to have guidelines for health supervision and anticipatory guidance of such patients.
Mild Wolf-Hirschhorn syndrome: micro-array CGH analysis of atypical 4p16.3 deletions enables refinement of the genotype-phenotype map
TLDR
A novel critical region distal to the previously defined critical region is postulated, which was termed the Wolf-Hirschhorn critical region 2 (WHSCR2), which is located within the WHSCR1 and at the distal boundary of this region.
Effect of the size of the deletion and clinical manifestation in Wolf-Hirschhorn syndrome: analysis of 13 patients with a de novo deletion
TLDR
Observations support the existence of a partial genotype–phenotype correlation in Wolf-Hirschhorn syndrome and determine the parental origin of the deletion with microsatellite markers.
The new Wolf–Hirschhorn syndrome critical region (WHSCR‐2): A description of a second case
TLDR
This patient presents a patient with a subtelomeric deletion of 4p16.3 showing growth and psychomotor delay with a typical WHS facial appearance and two episodes of seizures in conjunction with fever, which supports the recent proposal that the critical region for WHS is located distally to the WHSCR between the loci D4S3327 and D 4S98‐D4S16.
Natural History of Wolf-Hirschhorn Syndrome: Experience With 15 Cases
TLDR
The combined cases of the three centers with the 4p- syndrome represent considerable experience, providing new information on several aspects of this important deletion syndrome.
Molecular definition of the smallest region of deletion overlap in the Wolf-Hirschhorn syndrome.
TLDR
This study has localized the WHS region to approximately 2 Mb between D4S43 andD4S142, and eliminates the distal 100-300 kb from the telomere as being part of theWHS region.
Comprehensive analysis of Wolf–Hirschhorn syndrome using array CGH indicates a high prevalence of translocations
TLDR
Analysis of clinical manifestations of each patient revealed that patients with an unbalanced translocation often presented with exceptions to some expected phenotypes, and aCGH is a new technology that can analyze the entire genome at a significantly higher resolution over conventional cytogenetics to characterize unbalanced rearrangements.
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