Atypical fibrodysplasia ossificans progressiva diagnosed by whole-exome sequencing
| Autor: | Hao Liu, Sarah L Sawyer, Monika Gos, David Grynspan, Kheirie Issa, Raveena Ramphal, Carmen Rotaru, FORGE Canada Consortium, Jacek Majewski, Kym M Boycott, Gail Graham, Matthew Bromwich |
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| Rok vydání: | 2015 |
| Předmět: |
Pediatrics
medicine.medical_specialty Thyroid Gland Infantile myofibromatosis Neonatal onset ACVR1 Fatal Outcome Genetics Humans Medicine Exome Hallux Valgus Genetics (clinical) Exome sequencing Respiratory Distress Syndrome Newborn Fetal Growth Retardation Respiratory distress business.industry Uterus Genetic disorder High-Throughput Nucleotide Sequencing medicine.disease Myositis Ossificans Child Preschool Fibrodysplasia ossificans progressiva Mutation Female Heterotopic ossification business Activin Receptors Type I |
| Zdroj: | American Journal of Medical Genetics Part A. 167:1337-1341 |
| ISSN: | 1552-4825 |
| DOI: | 10.1002/ajmg.a.36969 |
| Popis: | Fibrodysplasia ossificans progressiva (FOP) is a rare genetic disorder characterized by congenital malformations of the great toes and progressive heterotopic ossification of connective tissue that begins during the first decade of life. Our patient presented with intrauterine growth retardation, respiratory distress, neonatal onset soft tissue masses, bilateral hallux valgus, and congenital anomalies of the thyroid and uterus. She was initially diagnosed with atypical infantile myofibromatosis based on clinical and pathological findings. She underwent whole-exome sequencing (WES) as part of the FORGE study to identify the gene for infantile myofibromatosis; however a de novo dominant mutation in ACVR1 (NM_001105.4:c.617G>A) revised the diagnosis to FOP. This patient highlights the utility of WES as an early diagnostic tool in the investigation of patients with unusual presentations of rare diseases, thereby providing clinicians with accurate molecular diagnoses and the opportunity to tailor clinical management to improve patient care. |
| Databáze: | OpenAIRE |
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