Acromesomelic dysplasia-Maroteaux type, nine patients with two novel NPR2 variants
| Autor: | Gönül Büyükyılmaz, Mustafa Kilic, Büşranur Çavdarlı, Esra Kılıç |
|---|---|
| Rok vydání: | 2021 |
| Předmět: |
0301 basic medicine
Pathology medicine.medical_specialty medicine.diagnostic_test business.industry Endocrinology Diabetes and Metabolism Dwarfism 030105 genetics & heredity medicine.disease Short stature NPR2 03 medical and health sciences 030104 developmental biology Endocrinology Skeletal disorder Dysplasia Pediatrics Perinatology and Child Health Medicine Missense mutation Acromesomelic dysplasia Maroteaux type medicine.symptom business Genetic testing |
| Zdroj: | Journal of Pediatric Endocrinology and Metabolism. 34:1115-1121 |
| ISSN: | 2191-0251 0334-018X |
| DOI: | 10.1515/jpem-2021-0055 |
| Popis: | Objectives Acromesomelic dysplasia, type Maroteaux, is an autosomal recessive skeletal dysplasia caused by biallelic loss of function variations of NPR2, which encodes a cartilage regulator C-type natriuretic peptide receptor B. NPR2 variations impair skeletal growth. It is a rare type of dwarfism characterized by shortening of the middle and distal segments of the limbs with spondylar dysplasia. Methods We performed detailed clinical and radiological evaluation and sequence analysis for NPR2. Results Herein, we report nine patients from eight families with two novel NPR2 pathogenic variants. Conclusions This study describes typical clinical phenotypes of Maroteaux type acromesomelic dysplasia, and enriches the variant spectrum of NPR2 by reporting one nonsense and one missense novel variant. We emphasize the importance of detailed clinical evaluation before genetic testing in diagnosing rare skeletal disorders. |
| Databáze: | OpenAIRE |
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