Open AccessReport of a Novel Homozygous Nonsense DDR2 Mutation in an Indian Adult Male with Spondylo-meta-epiphyseal Dysplasia, Short Limb-Abnormal Calcification Type
Author(s) -
Neerja Gupta,
Alec Reginald Errol Correa,
Manisha Jana,
Madhulika Kabra
Publication year - 2019
Publication title -
journal of pediatric genetics
Language(s) - English
Resource type - Journals
eISSN - 2146-4596
pISSN - 2146-460X
DOI - 10.1055/s-0039-1683382
Subject(s) - medicine , nonsense mutation , calcification , nonsense , dysplasia , anatomy , mutation , genetics , biology , gene , missense mutation
Spondylo-meta-epiphyseal dysplasia, short limb-abnormal calcification type is a rare autosomal recessive disorder causing severe disproportionate short stature along with typical radiological features. We report an adult male patient with typical features and a novel homozygous nonsense mutation c.2422C > T (p.Gln808Ter) in DDR2 . This is the first report of the disease from India.