Two unrelated patients with autosomal dominant omodysplasia and FRIZZLED2 mutations
| Autor: | Jules G. Leroy, Hannah Warren, Jaime L. Frias, Michael J. Friez, Neena L. Champaigne, Jürgen Spranger, Raymond J. Louie, Steven A. Skinner |
|---|---|
| Jazyk: | angličtina |
| Rok vydání: | 2018 |
| Předmět: |
0301 basic medicine
Pathology medicine.medical_specialty media_common.quotation_subject Nonsense Case Report Case Reports 030105 genetics & heredity Short stature 03 medical and health sciences Medicine Missense mutation media_common Omodysplasia Autosomal dominant omodysplasia business.industry Rhizomelia FRIZZLED2 rhizomelia General Medicine medicine.disease Robinow syndrome 030104 developmental biology Dysplasia omodysplasia medicine.symptom business |
| Zdroj: | Clinical Case Reports |
| ISSN: | 2050-0904 |
| Popis: | Autosomal dominant omodysplasia (OMOD2) is a rare skeletal dysplasia delineated and clinically differentiated from its autosomal recessive counterpart (OMOD1) by Maroteaux et al.1 OMOD2 is clinically characterized primarily by short upper extremities, with rhizomelic greater than mesomelic shortness, radial dislocation, short first metacarpals, facial dysmorphism, and genital anomalies. Additional features that have been variably reported include short stature, femoral anomalies, and vertebral anomalies. Saal et al2 recently described an alteration (c.1644G>A, p.Trp548*) in the FRIZZLED2 (FZD2) gene causative of OMOD2. Subsequently, there have been two additional reports of a novel missense alteration (c.1301G>T, p.Gly434Val) and a novel nonsense alteration (c.1640C>A, p.Ser547*) in the FZD2 gene associated with OMOD2.3, 4 The purposes of this report are to communicate the detection of the p.Trp548* FZD2 alteration in a previously described patient and to describe a new unrelated patient initially considered to have features more consistent with Robinow syndrome. |
| Databáze: | OpenAIRE |
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