Literature DB >> 31406622

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

Neerja Gupta1, Alec Reginald Errol Correa1, Manisha Jana2, Madhulika Kabra1.   

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.

Entities:  

Keywords:  DDR2; exome sequencing; novel mutation; skeletal dysplasia; spondylo-meta-epiphyseal dysplasia

Year:  2019        PMID： 31406622      PMCID： PMC6688880          DOI： 10.1055/s-0039-1683382

Source DB:  PubMed          Journal:  J Pediatr Genet        ISSN： 2146-460X


  14 in total

1.  Spondyloepimetaphyseal dysplasia, short limb-abnormal calcifications type: progressive radiological findings from fetal age to adolescence.

Authors:  Katya Rozovsky; Jacob Sosna; Martine Le Merrer; Natalia Simanovsky; Benjamin Z Koplewitz; Jacob Bar-Ziv; Valerie Cormier-Daire; Annick Raas-Rothschild
Journal:  Pediatr Radiol       Date:  2011-08-05

2.  Revised IAP growth charts for height, weight and body mass index for 5- to 18-year-old Indian children.

Authors:  Vaman Khadilkar; Sangeeta Yadav; K K Agrawal; Suchit Tamboli; Monidipa Banerjee; Alice Cherian; Jagdish P Goyal; Anuradha Khadilkar; V Kumaravel; V Mohan; D Narayanappa; I Ray; Vijay Yewale
Journal:  Indian Pediatr       Date:  2015-01       Impact factor: 1.411

3.  Spondylo-meta-epiphyseal dysplasia, short limbs, abnormal calcification type: a new case with severe neurological involvement.

Authors:  V Fano; H Lejarraga; C Barreiro
Journal:  Pediatr Radiol       Date:  2001-01

4.  Novel DDR2 mutation identified by whole exome sequencing in a Moroccan patient with spondylo-meta-epiphyseal dysplasia, short limb-abnormal calcification type.

Authors:  Maria Mansouri; Hülya Kayserili; Siham Chafai Elalaoui; Gen Nishimura; Aritoshi Iida; Jaber Lyahyai; Noriko Miyake; Naomichi Matsumoto; Abdelaziz Sefiani; Shiro Ikegawa
Journal:  Am J Med Genet A       Date:  2015-10-13       Impact factor: 2.802

5.  Spondylo-meta-epiphyseal dysplasia, short limb-abnormal calcification type.

Authors:  Sarah F Smithson; David Grier; Christine M Hall
Journal:  Clin Dysmorphol       Date:  2009-01       Impact factor: 0.816

6.  Sudden death in spondylo-meta-epiphyseal dysplasia, short limb-abnormal calcification type.

Authors:  Cristina Dias; Robyn Cairns; Millan S Patel
Journal:  Clin Dysmorphol       Date:  2009-01       Impact factor: 0.816

7.  Trafficking defects and loss of ligand binding are the underlying causes of all reported DDR2 missense mutations found in SMED-SL patients.

Authors:  Bassam R Ali; Huifang Xu; Nadia A Akawi; Anne John; Noushad S Karuvantevida; Ruth Langer; Lihadh Al-Gazali; Birgit Leitinger
Journal:  Hum Mol Genet       Date:  2010-03-10       Impact factor: 6.150

8.  Mutations in DDR2 gene cause SMED with short limbs and abnormal calcifications.

Authors:  Ruth Bargal; Valerie Cormier-Daire; Ziva Ben-Neriah; Martine Le Merrer; Jacob Sosna; Judith Melki; David H Zangen; Sarah F Smithson; Zvi Borochowitz; Ruth Belostotsky; Annick Raas-Rothschild
Journal:  Am J Hum Genet       Date:  2008-12-24       Impact factor: 11.025

9.  The time of onset of abnormal calcification in spondylometaepiphyseal dysplasia, short limb-abnormal calcification type.

Authors:  Beyhan Tüysüz; Nurperi Gazioğlu; Savaş Ungür; Dolly Yafet Aji; Seval Türkmen
Journal:  Pediatr Radiol       Date:  2008-11-11

10.  A novel mutation in DDR2 causing spondylo-meta-epiphyseal dysplasia with short limbs and abnormal calcifications (SMED-SL) results in defective intra-cellular trafficking.

Authors:  Adila Al-Kindi; Praseetha Kizhakkedath; Huifang Xu; Anne John; Abeer Al Sayegh; Anuradha Ganesh; Maha Al-Awadi; Lamya Al-Anbouri; Lihadh Al-Gazali; Birgit Leitinger; Bassam R Ali
Journal:  BMC Med Genet       Date:  2014-04-11       Impact factor: 2.103
View more

北京卡尤迪生物科技股份有限公司 © 2022-2023.