A Heterozygous Mutation in the Triple Helical Region of the Alpha 1 (II) Chain of the COL2A1 Protein Causes Non-Lethal Spondyloepiphyseal Dysplasia Congenita-Reference-Cited by-同舟云学术

A Heterozygous Mutation in the Triple Helical Region of the Alpha 1 (II) Chain of the COL2A1 Protein Causes Non-Lethal Spondyloepiphyseal Dysplasia Congenita

Published:2019-05 Issue:5 Volume:23 Page:310-315
ISSN:1945-0265
Container-title:Genetic Testing and Molecular Biomarkers
language:en
Short-container-title:Genetic Testing and Molecular Biomarkers

Author:

Almatrafi Ahmad¹,Alfadhli Fatima²,Khan Yasir Naseem³,Afzal Sibtain⁴,Hashmi Jamil A.⁵,Ullah Anhar⁶,Albalawi Alia M.⁵,Basit Sulman⁵

Affiliation:

1. College of Science, Taibah University, Almadinah Almunawwarah, Saudi Arabia.

2. Department of Genetic Diseases, King Abdulla Medical City-Madinah Maternity and Children Hospital, Almadinah Almunawwarah, Saudi Arabia.

3. Department of Anatomy, Al-Rayan Medical College, Almadinah Almunawwarah, Saudi Arabia.

4. Department of Pediatrics, Asthma Research Chair and Prince Naif Center for Immunology Research, College of Medicine, King Saud University, Riyadh, Saudi Arabia.

5. Center for Genetics and Inherited Diseases, Taibah University, Almadinah Almunawwarah, Saudi Arabia.

6. Cardiac Sciences Department, College of Medicine, King Saud University, Riyadh, Saudi Arabia.

Publisher

Mary Ann Liebert Inc

Subject

Genetics (clinical),General Medicine

Link

https://www.liebertpub.com/doi/pdf/10.1089/gtmb.2018.0301

Reference30 articles.

1. Novel splice (IVS18+1G>C) mutation in COL2A1 causing Kniest dysplasia

2. Whole exome sequencing analysis identifies a missense variant in COL1A2 gene which causes osteogenesis imperfecta Type IV in a family from Saudi Arabia

3. Confirmation of autosomal recessive inheritance ofCOL2A1mutations in spondyloepiphyseal dysplasia congenita: Lessons for genetic counseling