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| http://dx.doi.org/10.3389/fgene.2022.938513 | DOI Listing |
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Widening the infantile hypotonia with psychomotor retardation and characteristic Facies-1 Syndrome's clinical and molecular spectrum through NALCN structural analysis.
Front Genet
December 2024
Bioinformatics Unit, Fondazione IRCCS Casa Sollievo Della Sofferenza, San Giovanni Rotondo, Italy.
Introduction: Infantile hypotonia with psychomotor retardation and characteristic facies-1 (IHPRF1, MIM#615419) is a rare, birth onset, autosomal recessive disorder caused by homozygous or compound heterozygous truncating variants in gene (MIM#611549) resulting in a loss-of-function effect.
Methods: We enrolled a new IHPRF1 patients' cohort in the framework of an international multicentric collaboration study. Using specialized pathogenicity predictors and structural analyses, we assessed the mechanistic consequences of the deleterious variants retrieved on NALCN structure and function.
Case Report: An association of left ventricular outflow tract obstruction with 5p deletions.
Front Genet
October 2024
University of Pittsburgh, Pittsburgh, PA, United States.
Introduction: 5p deletion syndrome, also called Cri-du-chat syndrome 5p is a rare genetic syndrome with reports up to 36% of patients are associated with congenital heart defects. We investigated the association between left outflow tract obstruction and Cri-du-chat syndrome.
Methods: A retrospective review of the abnormal microarray cases with congenital heart defects in Children's Hospital of Pittsburgh and the Cytogenomics of Cardiovascular Malformations Consortium.
Optical Genome Mapping in Prenatal Diagnosis: Democratizing Comprehensive Cytogenomic Testing.
Clin Chem
June 2024
The Steve and Cindy Rasmussen Institute for Genomic Medicine, Nationwide Children's Hospital, Columbus, OH, United States.
Case report: Long term response to growth hormone in a child with Silver-Russell syndrome-like phenotype due to a novel paternally inherited IGF2 variant.
Front Endocrinol (Lausanne)
April 2024
Research Area for Innovative Therapies in Endocrinopathies, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
Article Synopsis
- - Silver-Russell syndrome (SRS) is a rare genetic disorder characterized by symptoms like intrauterine growth retardation, poor development after birth, a triangular face, and feeding issues, with diagnosis based on clinical features.
- - Genetic abnormalities are found in about 60% of SRS patients, primarily on chromosomes 7 or 11, while the cause remains unknown for around 40% of cases, termed idiopathic SRS.
- - A new genetic variant was identified in a child with severe growth issues linked to SRS, highlighting the effectiveness of targeted exome sequencing, and long-term growth hormone treatment was found to improve the child's height.
gene mutation/deletion: the cognitive-behavioral phenotyping of four case reports.
Front Psychiatry
January 2024
Child and Adolescent Neuropsychiatry Unit, Department of Neuroscience, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
Introduction: X-linked gene has recently been pointed as one of the most interesting candidates for involvement in neurodevelopmental disorders (NDs), such as intellectual disability (ID) and autism spectrum disorder (ASD). encodes the patched domain-containing protein 1 (), which is mainly expressed in the developing brain and adult brain tissues. To date, major studies have focused on the biological function of the gene, while the mechanisms underlying neuronal alterations and the cognitive-behavioral phenotype associated with mutations still remain unclear.
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