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NM_003995.3(NPR2):c.528T>A (p.Asp176Glu) AND Acromesomelic dysplasia Maroteaux type

Significance: Pathogenic
ClinVar: RCV000019364

Variant: NM_003995.3(NPR2):c.528T>A (p.Asp176Glu)

Type: Variant
Allele: NM_003995.3(NPR2):c.528T>A (p.Asp176Glu) 32825
Gene:
Type: single nucleotide variant
Location: Chr9: 35792936 - assembly GRCh38
Chr9: 35792933 - assembly GRCh37
References: dbSNP: 28929479
OMIM: 108961.0003
UniProtKB: P20594#VAR_022585

Condition

Disease: Acromesomelic dysplasia Maroteaux type

Citation

    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