학술논문
Extended phenotypic characterization of a novel Helsmoortel-van der Aa syndrome case series.
Document Type
Academic Journal
Author
Pascolini G; Rare Diseases Center, Istituto Dermopatico dell'Immacolata, IDI-IRCCS, Rome, Italy.; Di Zenzo G; Molecular and Cell Biology Laboratory, Istituto Dermopatico dell'Immacolata, IDI-IRCCS, Rome, Italy.; Panebianco A; Medical Direction, Istituto Dermopatico dell'Immacolata, IDI-IRCCS, Rome, Italy.; Didona B; Rare Diseases Center, Istituto Dermopatico dell'Immacolata, IDI-IRCCS, Rome, Italy.; Gozes I; Elton Laboratory for Molecular Neuroscience, Department of Human Molecular Genetics and Biochemistry, Faculty of Medicine, Adams Super Center for Brain Studies and Sagol School of Neuroscience, Tel Aviv University, Tel Aviv, Israel.
Source
Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101235741 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1552-4833 (Electronic) Linking ISSN: 15524825 NLM ISO Abbreviation: Am J Med Genet A Subsets: MEDLINE
Subject
Language
English
Abstract
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.
(© 2024 The Authors. American Journal of Medical Genetics Part A published by Wiley Periodicals LLC.)
(© 2024 The Authors. American Journal of Medical Genetics Part A published by Wiley Periodicals LLC.)