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J Pediatr Genet 2019; 08(03): 153-156
DOI: 10.1055/s-0039-1683382
Case Report
Georg Thieme Verlag KG Stuttgart · New York

Report of a Novel Homozygous Nonsense DDR2 Mutation in an Indian Adult Male with Spondylo-meta-epiphyseal Dysplasia, Short Limb-Abnormal Calcification Type

Neerja Gupta 
1   Division of Genetics, Department of Pediatrics, All India Institute of Medical Sciences, New Delhi, India
,
Alec Reginald Errol Correa
1   Division of Genetics, Department of Pediatrics, All India Institute of Medical Sciences, New Delhi, India
,
Manisha Jana
2   Department of Radiodiagnosis, All India Institute of Medical Sciences, New Delhi, India
,
Madhulika Kabra
1   Division of Genetics, Department of Pediatrics, All India Institute of Medical Sciences, New Delhi, India
› Institutsangaben
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Publikationsverlauf

07. Oktober 2018

30. Januar 2019

Publikationsdatum:
12. März 2019 (online)

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Abstract

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.

Keywords

skeletal dysplasia - spondylo-meta-epiphyseal dysplasia - novel mutation - DDR2 - exome sequencing
 

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