| Autor: |
S Ozemri, Sag, O, Gorukmez, A, Topak, M, Ture, S, Sahinturk, T, Gulten, T, Yakut |
| Rok vydání: |
2015 |
| Předmět: |
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| Zdroj: |
Genetic counseling (Geneva, Switzerland). 26(2) |
| ISSN: |
1015-8146 |
| Popis: |
Acromesomelic dysplasia, Maroteaux type (AMDM) is a rare autosomal recessive disease characterized by disproportionate shortening of skeletal elements, predominantly affecting the middle segments (forearms and forelegs) and distal segments (hands and feet) of appendicular skeleton. Furthermore it is related to axial skeleton and leads to wedging of vertebral bodies, with shorter dorsal margins than the ventral margins. Bartels et al. defined mutations in NPR2 gene, encoding natriuretic peptide receptor B (NPR-B), underlying Acromesomelic dysplasia, type Maroteaux. We present here molecular and clinical findings of a case with AMDM. In a patient, a novel homozygous mutation c.1435CT p.R479X in exon 7 of NPR2 gene was found. Further testing confirmed the heterozygous carrier status of the parents. Our findings expand the spectrum of causative mutations in AMDM. |
| Databáze: |
OpenAIRE |
| Externí odkaz: |
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