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Atypical fibrodysplasia ossificans progressiva diagnosed by whole‐exome sequencing
Author(s) -
Liu Hao,
Sawyer Sarah L,
Gos Monika,
Grynspan David,
Issa Kheirie,
Ramphal Raveena,
Rotaru Carmen,
Consortium FORGE Canada,
Majewski Jacek,
Boycott Kym M,
Graham Gail,
Bromwich Matthew
Publication year - 2015
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.36969
Subject(s) - fibrodysplasia ossificans progressiva , medicine , exome sequencing , heterotopic ossification , genetic disorder , pediatrics , connective tissue disorder , myositis ossificans , dermatology , pathology , surgery , mutation , genetics , disease , biology , gene
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. © 2015 Wiley Periodicals, Inc.