دورية أكاديمية
Whole exome sequencing reveals a dual diagnosis of BCAP31-related syndrome and glutaric aciduria III
| العنوان: | Whole exome sequencing reveals a dual diagnosis of BCAP31-related syndrome and glutaric aciduria III |
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| المؤلفون: | Erin Huggins, David G. Jackson, Sarah P. Young, Priya S. Kishnani |
| المصدر: | Molecular Genetics and Metabolism Reports, Vol 40, Iss , Pp 101117- (2024) |
| بيانات النشر: | Elsevier, 2024. |
| سنة النشر: | 2024 |
| المجموعة: | LCC:Medicine (General) LCC:Biology (General) |
| مصطلحات موضوعية: | Biochemical genetics, X-linked intellectual disability, Rare disease, Diagnostic odyssey, Glutaric aciduria type III, Dual diagnosis, Medicine (General), R5-920, Biology (General), QH301-705.5 |
| الوصف: | Background: Biochemical testing is a common first-tier approach in the setting of genetic evaluation of patients with unexplained developmental delay. However, results can be unclear, and a plan for second-tier analysis must be determined based on the patient's biochemical results and clinical presentation - in many cases, triggering a diagnostic odyssey. Case presentation: A male patient from the United States presenting with unexplained developmental delay, microcephaly, hypotonia, and feeding difficulties was referred for clinical genetic evaluation at age 8 months. Biochemical testing revealed an isolated marked elevation of glutaric acid on urine organic acid profile, without elevations of related metabolites. Further testing included GCDH sequencing, a neurometabolic gene panel, chromosomal microarray, Prader Willi/Angelman testing, and lysosomal disease enzyme panel, all of which were non-diagnostic. The patient had persistent developmental delay and hypotonia, dystonia, sensorineural hearing loss, and abnormal brain myelination on magnetic resonance imaging. Whole exome sequencing (WES) was performed and revealed a dual diagnosis of glutaric aciduria III (GA III) and BCAP31-related disorder, an X-linked intellectual disability syndrome, caused by a novel pathogenic variant. Conclusions: GA III has historically been considered clinically benign, with few reported cases. This patient's presenting symptoms were similar to those commonly seen in GA I and GA II, however the biochemical abnormalities were not consistent with these disorders, prompting additional molecular and biochemical testing. Ultimately, WES confirmed a diagnosis of BCAP31-related syndrome, a rare neurological disorder, which explained the patient's presenting symptoms. WES also identified a secondary diagnosis of GA III. We present a patient with two rare genetic conditions, highlighting the importance of deep phenotyping and the utility of WES in the setting of a patient with dual genetic diagnoses. |
| نوع الوثيقة: | article |
| وصف الملف: | electronic resource |
| اللغة: | English |
| تدمد: | 2214-4269 |
| Relation: | http://www.sciencedirect.com/science/article/pii/S2214426924000703; https://doaj.org/toc/2214-4269 |
| DOI: | 10.1016/j.ymgmr.2024.101117 |
| URL الوصول: | https://doaj.org/article/5b06a9ca26644f6a8fa8d70ac35fb95b |
| رقم الأكسشن: | edsdoj.5b06a9ca26644f6a8fa8d70ac35fb95b |
| قاعدة البيانات: | Directory of Open Access Journals |
Full Text Finder | تدمد: | 22144269 |
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| DOI: | 10.1016/j.ymgmr.2024.101117 |