E-resources
Peer reviewed
Open access
-
van der Laan, Liselot; Karimi, Karim; Rooney, Kathleen; Lauffer, Peter; McConkey, Haley; Caro, Pilar; Relator, Raissa; Levy, Michael A.; Bhai, Pratibha; Mignot, Cyril; Keren, Boris; Briuglia, Silvana; Sobering, Andrew K.; Li, Dong; Vissers, Lisenka E.L.M.; Dingemans, Alexander J.M.; Valenzuela, Irene; Verberne, Eline A.; Misra-Isrie, Mala; Zwijnenburg, Petra J.G.; Waisfisz, Quinten; Alders, Mariëlle; Sailer, Sebastian; Schaaf, Christian P.; Mannens, Marcel M.A.M.; Sadikovic, Bekim; van Haelst, Mieke M.; Henneman, Peter
Genetics in medicine, March 2024, 2024-Mar, Volume: 26, Issue: 3Journal Article
Hao-Fountain syndrome (HAFOUS) is a neurodevelopmental disorder caused by pathogenic variants in USP7. HAFOUS is characterized by developmental delay, intellectual disability, speech delay, behavioral abnormalities, autism spectrum disorder, seizures, hypogonadism, and mild dysmorphic features. We investigated the phenotype of 18 participants with HAFOUS and performed DNA methylation (DNAm) analysis, aiming to generate a diagnostic biomarker. Furthermore, we performed comparative analysis with known episignatures to gain more insight into the molecular pathophysiology of HAFOUS. We assessed genomic DNAm profiles of 18 individuals with pathogenic variants and variants of uncertain significance (VUS) in USP7 to map and validate a specific episignature. The comparison between the USP7 cohort and 56 rare genetic disorders with earlier reported DNAm episignatures was performed with statistical and functional correlation. We mapped a sensitive and specific DNAm episignature for pathogenic variants in USP7 and utilized this to reclassify the VUS. Comparative epigenomic analysis showed evidence of HAFOUS similarity to a number of other rare genetic episignature disorders. We discovered a sensitive and specific DNAm episignature as a robust diagnostic biomarker for HAFOUS that enables VUS reclassification in USP7. We also expand the phenotypic spectrum of 9 new and 5 previously reported individuals with HAFOUS.
Author
![loading ... loading ...](themes/default/img/ajax-loading.gif)
Shelf entry
Permalink
- URL:
Impact factor
Access to the JCR database is permitted only to users from Slovenia. Your current IP address is not on the list of IP addresses with access permission, and authentication with the relevant AAI accout is required.
Year | Impact factor | Edition | Category | Classification | ||||
---|---|---|---|---|---|---|---|---|
JCR | SNIP | JCR | SNIP | JCR | SNIP | JCR | SNIP |
Select the library membership card:
If the library membership card is not in the list,
add a new one.
DRS, in which the journal is indexed
Database name | Field | Year |
---|
Links to authors' personal bibliographies | Links to information on researchers in the SICRIS system |
---|
Source: Personal bibliographies
and: SICRIS
The material is available in full text. If you wish to order the material anyway, click the Continue button.