Understanding the phenotypic spectrum of ASXL ‐related disease: Ten cases and a review of the literature
| Autor: | Vishnu Anand Cuddapah, Elaine H. Zackai, Holly Dubbs, Elizabeth M. McCormick, Zarazuela Zolkipli-Cunningham, Daniel J. Licht, Steven L Kugler, Eric D. Marsh, Laura Adang, Xilma R. Ortiz-Gonzalez, Shana E. McCormack, Marni J. Falk |
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| Rok vydání: | 2021 |
| Předmět: |
Adult
Male Microcephaly Adolescent Developmental Disabilities Disease Bioinformatics Article Craniosynostoses Young Adult Many core Intellectual Disability Genetics medicine Humans Genetic Predisposition to Disease Child Clinical syndrome Genetics (clinical) business.industry Infant medicine.disease Phenotype Hypotonia Repressor Proteins Child Preschool Mutation Cohort Muscle Hypotonia Female medicine.symptom business Bohring–Opitz syndrome Transcription Factors |
| Zdroj: | Am J Med Genet A |
| ISSN: | 1552-4833 1552-4825 |
| DOI: | 10.1002/ajmg.a.62156 |
| Popis: | Over the past decade, pathogenic variants in all members of the ASXL family of genes, ASXL1, ASXL2, and ASXL3, have been found to lead to clinically distinct but overlapping syndromes. Bohring-Opitz syndrome (BOPS) was first described as a clinical syndrome and later found to be associated with pathogenic variants in ASXL1. This syndrome is characterized by developmental delay, microcephaly, characteristic facies, hypotonia, and feeding difficulties. Subsequently, pathogenic variants in ASXL2 were found to lead to Shashi-Pena syndrome (SHAPNS) and in ASXL3 to lead to Bainbridge-Ropers syndrome (BRPS). While SHAPNS and BRPS share many core features with BOPS, there also seem to be emerging clear differences. Here, we present five cases of BOPS, one case of SHAPNS, and four cases of BRPS. By adding our cohort to the limited number of previously published patients, we review the overlapping features of ASXL-related diseases that bind them together, while focusing on the characteristics that make each neurodevelopmental syndrome unique. This will assist in diagnosis of these overlapping conditions and allow clinicians to more comprehensively counsel affected families. |
| Databáze: | OpenAIRE |
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