Current recommendations for the molecular evaluation of newly diagnosed holoprosencephaly patients. - Inserm - Institut national de la santé et de la recherche médicale Accéder directement au contenu
Article Dans Une Revue American Journal of Medical Genetics Part C: Seminars in Medical Genetics Année : 2010

Current recommendations for the molecular evaluation of newly diagnosed holoprosencephaly patients.

Résumé

Holoprosencephaly (HPE) is the most common structural malformation of the developing forebrain in humans and is typically characterized by different degrees of hemispheric separation that are often accompanied by similarly variable degrees of craniofacial and midline anomalies. HPE is a classic example of a complex genetic trait with "pseudo"-autosomal dominant transmission showing incomplete penetrance and variable expressivity. Clinical suspicion of HPE is typically based upon compatible craniofacial findings, the presence of developmental delay or seizures, or specific endocrinological abnormalities, and is then followed up by confirmation with brain imaging. Once a clinical diagnosis is made, a thorough genetic evaluation is necessary. This usually includes analysis of chromosomes by high-resolution karyotyping, clinical assessment to rule-out well recognized syndromes that are associated with HPE (e.g., Pallister-Hall syndrome, Smith-Lemli-Opitz syndrome and others), and molecular studies of the most common HPE associated genes (e.g., SHH, ZIC2 and SIX3). In this review, we provide current step-by-step recommendations that are medically indicated for the genetic evaluation of patients with newly diagnosed HPE. Moreover, we provide a brief review of several available methods used in molecular diagnostics of HPE and describe the advantages and limitations of both currently available and future tests as they relate to high throughput screening, cost, and the results that they may provide.
Fichier principal
Vignette du fichier
Pineda-Alvarez_et_al_10_27_10.pdf (376.78 Ko) Télécharger le fichier
Figure_1_Pineda-Alvarez.pdf (78.69 Ko) Télécharger le fichier
inserm-00462036_edited.pdf (342 Ko) Télécharger le fichier
Origine : Fichiers produits par l'(les) auteur(s)
Origine : Fichiers produits par l'(les) auteur(s)
Origine : Fichiers produits par l'(les) auteur(s)
Loading...

Dates et versions

inserm-00462036 , version 1 (11-03-2010)

Identifiants

Citer

Daniel Pineda-Alvarez, Christèle Dubourg, Véronique David, Erich Roessler, Maximilian Muenke. Current recommendations for the molecular evaluation of newly diagnosed holoprosencephaly patients.. American Journal of Medical Genetics Part C: Seminars in Medical Genetics, 2010, 154C (1), pp.93-101. ⟨10.1002/ajmg.c.30253⟩. ⟨inserm-00462036⟩
141 Consultations
1565 Téléchargements

Altmetric

Partager

Gmail Facebook X LinkedIn More