Background: Hao-Fountain syndrome is a neurodevelopmental disorder characterized by global developmental delay, variably impaired intellectual development with significant speech delay and, in some males patients, it has been reported an association with hypogonadism. At present less than 50 cases are reported in literature.
Case Presentation: We report a case of this rare syndrome in a young female with isolated tubal torsion; our patients had different hospitalizations without treatment but during the last episode we decide to perform an abdominal surgical explortion. This is the first case in Literature with a new USP7 mutation.
Conclusions: This case opens new perspective in this rare syndrome and a review approach to isolated tubal torsion. These symptoms should be always well checked.
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| http://dx.doi.org/10.1186/s13052-022-01367-7 | DOI Listing |
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Identification of Two Variants c.2697A > C and c.3305A > C in USP7 by Analysis of Whole-Exome Sequencing in Chinese Patients with Hao-Fountain Syndrome.
Glob Med Genet
January 2024
Tianjin Children's Hospital (Children's Hospital of Tianjin University), Tianjin, Peoples' Republic of China.
Variants of ubiquitin-specific protease 7 ( ) gene in humans are associated with a neurodevelopmental disorder-Hao-Fountain syndrome, its core symptoms including developmental delay, intellectual disability, and speech delay. Other variable symptoms can affect multiple systems. In present study, we report two patients with core features from two unrelated consanguineous families originating from the Tianjin Children's Hospital.
View Article and Find Full Text PDFHao-Fountain syndrome: 32 novel patients reveal new insights into the clinical spectrum.
Clin Genet
May 2024
Institute of Human Genetics, Heidelberg University, Heidelberg, Germany.
Hao-Fountain syndrome (HAFOUS, OMIM: #616863) is a neurodevelopmental disorder caused by pathogenic variants in the gene USP7 coding for USP7, a protein involved in several crucial cellular homeostatic mechanisms and the recently described MUST complex. The phenotype of HAFOUS is insufficiently understood, yet there is a great need to better understand the spectrum of disease, genotype-phenotype correlations, and disease trajectories. We now present a larger cohort of 32 additional individuals and provide further clinical information about six previously reported individuals.
View Article and Find Full Text PDFDNA methylation episignature, extension of the clinical features, and comparative epigenomic profiling of Hao-Fountain syndrome caused by variants in USP7.
Genet Med
March 2024
Department of Human Genetics, Amsterdam Reproduction and Development Research Institute, Amsterdam University Medical Center, University of Amsterdam, Amsterdam, The Netherlands. Electronic address:
Purpose: 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.
View Article and Find Full Text PDFPrecise control of protein ubiquitination is essential for brain development, and hence, disruption of ubiquitin signaling networks can lead to neurological disorders. Mutations of the deubiquitinase USP7 cause the Hao-Fountain syndrome (HAFOUS), characterized by developmental delay, intellectual disability, autism, and aggressive behavior. Here, we report that conditional deletion of USP7 in excitatory neurons in the mouse forebrain triggers diverse phenotypes including sensorimotor deficits, learning and memory impairment, and aggressive behavior, resembling clinical features of HAFOUS.
View Article and Find Full Text PDFA Rare Case of Hao-Fountain Syndrome Mimicking Fragile X Syndrome.
Cureus
September 2023
Pediatrics, Nona Pediatric Center, Orlando, USA.
Hao-Fountain syndrome (HAFOUS) is a rare neurodevelopmental disorder caused by mutations in the ubiquitin-specific protease 7 (USP7) gene for endosomal recycling. The diagnosis is often challenging due to the nonspecific presentation of intellectual disability and developmental delay, often accompanied by dysmorphic facies. In this case, we present an 18-year-old female with intellectual disability (ID), attention-deficit/hyperactivity disorder (ADHD), and dysmorphic facies who had undergone single nucleotide polymorphism (SNP) microarray and fragile X polymerase chain reaction (PCR) testing five years prior to diagnosis, both returning with negative results for genetic anomalies.
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