Extended phenotypic characterization of a novel Helsmoortel-van der Aa syndrome case series.
ADNP
ADNP syndrome
Helsmoortel-van der Aa syndrome (HVDAS)
Italian case series
phenotype
Journal
American journal of medical genetics. Part A
ISSN: 1552-4833
Titre abrégé: Am J Med Genet A
Pays: United States
ID NLM: 101235741
Informations de publication
Date de publication:
10 Jan 2024
10 Jan 2024
Historique:
revised:
19
12
2023
received:
28
08
2023
accepted:
30
12
2023
medline:
11
1
2024
pubmed:
11
1
2024
entrez:
11
1
2024
Statut:
aheadofprint
Résumé
The neurodevelopmental disorder known as Helsmoortel-van der Aa syndrome (HVDAS, MIM#616580) or ADNP syndrome (Orphanet, ORPHA:404448) is a multiple congenital anomaly (MCA) condition, reported as a syndrome in 2014, associated with deleterious variants in the ADNP gene (activity-dependent neuroprotective protein; MIM*611386) in several children. First reported in the turn of the century, ADNP is a protein with crucial functions for the normal development of the central nervous system and with pleiotropic effects, explaining the multisystemic character of the syndrome. Affected individuals present with striking facial dysmorphic features and variable congenital defects. Herein, we describe a novel case series of HVDAS Italian patients, illustrating their clinical findings and the related genotype-phenotype correlations. Interestingly, the cutaneous manifestations are also extensively expanded, giving an important contribution to the clinical characterization of the condition, and highlighting the relation between skin abnormalities and ADNP defects.
Identifiants
pubmed: 38204290
doi: 10.1002/ajmg.a.63539
doi:
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Informations de copyright
© 2024 The Authors. American Journal of Medical Genetics Part A published by Wiley Periodicals LLC.
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