Atypical fibrodysplasia ossificans progressiva diagnosed by whole-exome sequencing

被引：5

作者：

Liu, Hao ^{[1
]}

Sawyer, Sarah L. ^{[2
,3
]}

Gos, Monika ^{[4
]}

Grynspan, David ^{[5
]}

Issa, Kheirie ^{[6
]}

Ramphal, Raveena ^{[7
]}

Rotaru, Carmen ^{[8
]}

Majewski, Jacek ^{[9
]}

Boycott, Kym M. ^{[2
,3
]}

Graham, Gail ^{[2
,3
]}

Bromwich, Matthew ^{[10
]}

机构：

[1] Univ Ottawa, Fac Med, Ottawa, ON, Canada

[2] Univ Ottawa, Eastern Ontario Res Inst, Childrens Hosp, Ottawa, ON, Canada

[3] Childrens Hosp Eastern Ontario, Dept Genet, Ottawa, ON K1H 8L1, Canada

[4] Inst Mother & Child Hlth, Dept Med Genet, Warsaw, Poland

[5] Childrens Hosp Eastern Ontario, Dept Pathol, Ottawa, ON K1H 8L1, Canada

[6] Childrens Hosp Eastern Ontario, Div Gen Pediat, Ottawa, ON K1H 8L1, Canada

[7] Childrens Hosp Eastern Ontario, Div Hematol Oncol, Ottawa, ON K1H 8L1, Canada

[8] Childrens Hosp Eastern Ontario, Dept Diagnost Imaging, Ottawa, ON K1H 8L1, Canada

[9] McGill Univ, Dept Human Genet, Montreal, PQ, Canada

[10] Childrens Hosp Eastern Ontario, Div Otolaryngol Head & Neck Surg, Ottawa, ON K1H 8L1, Canada

来源：

AMERICAN JOURNAL OF MEDICAL GENETICS PART A | 2015年 / 167卷 / 06期

基金：

加拿大健康研究院;

关键词：

fibrodysplasia ossificans progressiva; heterotopic ossification; hallux valgus; whole exome sequencing; GENERALIZED INFANTILE MYOFIBROMATOSIS; MUTATIONS; THERAPY;

D O I：

10.1002/ajmg.a.36969

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

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. (c) 2015 Wiley Periodicals, Inc.

引用

页码：1337 / 1341

页数：5

共 14 条

[1] First-Line Therapy of Generalized Infantile Myofibromatosis With Low-Dose Vinblastine and Methotrexate [J].