NM_003995.3(NPR2):c.528T>A (p.Asp176Glu) AND Acromesomelic dysplasia Maroteaux type
| Significance: | Pathogenic |
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| ClinVar: | RCV000019364 |
Variant: NM_003995.3(NPR2):c.528T>A (p.Asp176Glu) |
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| Type: | Variant |
Allele: NM_003995.3(NPR2):c.528T>A (p.Asp176Glu) 32825 |
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| Gene: | NPR2 |
| Type: | single nucleotide variant |
| Location: |
Chr9: 35792936
- assembly
GRCh38 Chr9: 35792933 - assembly GRCh37 |
| References: | dbSNP:
28929479 OMIM: 108961.0003 UniProtKB: P20594#VAR_022585 |
Condition |
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| Disease: | Acromesomelic dysplasia Maroteaux type |
Citation |
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In a nonconsanguineous U.S. white family with acromesomelic dysplasia, type Maroteaux (602875), Bartels et al. (2004) found compound heterozygosity for a missense mutation and a premature stop mutation in the NPR2 gene as the basis of the disorder. The allele inherited from the mother carried a 528T-A transversion, resulting in an asp176-to-glu (D176E) change in the protein. The allele inherited from the father carried a 1162C-T transition, resulting in an arg388-to-ter (R388X) mutation (108961.0004). The father was 170 cm tall as compared to the average matched control height of 177 cm; the mother was 150 cm tall as compared with the average matched control of 163.3 cm. PMID:15146390 |
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