NovelDDR2mutation identified by whole exome sequencing in a Moroccan patient with spondylo-meta-epiphyseal dysplasia, short limb-abnormal calcification type-Reference-Cited by-同舟云学术

NovelDDR2mutation identified by whole exome sequencing in a Moroccan patient with spondylo-meta-epiphyseal dysplasia, short limb-abnormal calcification type

Published:2015-10-13 Issue:2 Volume:170 Page:460-465
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Mansouri Maria¹²,Kayserili Hülya³,Elalaoui Siham Chafai¹²,Nishimura Gen⁴,Iida Aritoshi⁵,Lyahyai Jaber²,Miyake Noriko⁶,Matsumoto Naomichi⁶,Sefiani Abdelaziz¹²,Ikegawa Shiro⁵

Affiliation:

1. Département de Génétique Médicale, Institut National d'Hygiène; Rabat Morocco

2. Centre de Génomique Humaine, Faculté de Médecine et de Pharmacie de Rabat, Université Mohammed V Souissi; Rabat Morocco

3. Medical Genetics Department, İstanbul Medical Faculty, İstanbul University; İstanbul Turkey

4. Department of Pediatric Imaging, Tokyo Metropolitan Children's Medical Center; Fuchu Japan

5. Laboratory of Bone and Joint Diseases, RIKEN Center for Integrated Medical Sciences, Tokyo; Japan

6. Department of Human Genetics, Yokohama City University Graduate School of Medicine; Yokohama Japan

Funder

Japan Agency For Medical Research and Development (AMED)

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/ajmg.a.37426/fullpdf

Reference15 articles.

1. Trafficking defects and loss of ligand binding are the underlying causes of all reported DDR2 missense mutations found in SMED-SL patients;Ali;Hum Mol Genet,2010

2. Spondylo-metaepiphyseal dysplasia, short limb, abnormal calcification type;Al-Gazali;Clin Dysmorphol,1996

3. A novel mutation in DDR2 causing spondylometa-epiphyseal dysplasia with short limbs and abnormal calcifications (SMED-SL) results in defective intra-cellular trafficking;Al-Kindi;BMC Med Genet,2014

4. Mutations in DDR2 gene cause SMED with short limbs and abnormal calcifications;Bargal;Am J Hum Genet,2009

5. Spondylo-metaepiphyseal dysplasia (SMED), short limb-hand type: A congenital familial skeletal dysplasia with distinctive features and histopathology;Borochowitz;Am J Med Genet,1993

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