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Pregabalin treatment in a 30-year-old patient with Bainbridge-Ropers syndrome: a case-report.
Front Psychiatry
December 2024
Département de Psychiatrie, Centre Hospitalier Universitaire Vaudois (CHUV), Lausanne, Switzerland.
Mr. X is a Swiss patient with Bainbridge-Ropers syndrome clinically and genetically diagnosed at the age of 28. He is also known to have severe intellectual disability, autism spectrum disorder and epilepsy since the age of 18.
View Article and Find Full Text PDFFour heterozygous variants in identified with Bainbridge-Ropers syndrome and further dissecting published genotype-phenotype spectrum.
Front Neurosci
November 2024
Jinan Institute of Child Health Care, Children's Hospital Affiliated to Shandong University, Jinan, China.
Article Synopsis
- Bainbridge-Ropers syndrome (BRPS) is a recently identified genetic disorder linked to truncating variants in the additional sex combs like 3 gene on chromosome 18q12.1, primarily affecting intellectual and developmental functioning.
- Researchers performed trio-based exome sequencing on patients with unexplained intellectual disabilities at a Chinese hospital and discovered truncating variants in four individuals, including two novel variants that had not been previously reported.
- The study emphasizes differences in clinical manifestations of BRPS among populations and aims to enhance understanding of the genetic factors involved, which is essential for improving clinical diagnosis and treatment approaches.
[Report of a child with Bainbridge-Ropers syndrome due to a novel variant of ASXL3 gene and a literature review].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
August 2024
Department of Children's Health, Nanjing Children's Hospital, Nanjing, Jiangsu 210008, China.
Objective: To explore the clinical phenotype and genetic basis of a child with Bainbridge-Ropers syndrome (BRPS).
Methods: A child with BRPS who had visited Nanjing Children's Hospital on June 26, 2019 was selected as the study subject. Clinical data of the child was reviewed.
An adolescent case of ASXL3-related disorder with delayed onset of feeding difficulty.
BMC Pediatr
May 2024
Division of Child Neurology, Department of Brain and Neurosciences, Faculty of Medicine, Tottori University, 36-1 Nishi-Cho, Yonago, 683-8504, Tottori, Japan.
Article Synopsis
- ASXL3-related disorder is a genetic condition that leads to developmental delays and limited speech, first identified in 2013, and follows an autosomal dominant inheritance pattern.
- A 14-year-old girl with the disorder presented with emotional instability and a significant decrease in food intake, resulting in weight loss, with no signs of bulimia or food allergies.
- This case marks the first adolescent instance of feeding difficulties linked to ASXL3-related disorder, suggesting avoidant/restrictive food intake disorder (ARFID) as a possible contributing factor.
ASXL3-related disorder: Molecular phenotyping and comprehensive review providing insights into disease mechanism.
Clin Genet
May 2024
Sheffield Clinical Genetics Service, Sheffield Children's Hospital, Sheffield, UK.
ASXL3-related disorder, sometimes referred to as Bainbridge-Ropers syndrome, was first identified as a distinct neurodevelopmental disorder by Bainbridge et al. in 2013. Since then, there have been a number of case series and single case reports published worldwide.
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