Repository of Research and Investigative Information

Repository of Research and Investigative Information

دانشگاه علوم پزشکی و خدمات بهداشتی درمانی زنجان

Whole exome sequencing identifies a homozygous pycr1 missense variant in a patient with autosomal recessive cutis laxa type 2b: A case report

(2019) Whole exome sequencing identifies a homozygous pycr1 missense variant in a patient with autosomal recessive cutis laxa type 2b: A case report. Journal of Comprehensive Pediatrics. ISSN 2251-8150

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Official URL: https://www.scopus.com/inward/record.uri?eid=2-s2....

Abstract

Autosomal recessive cutis laxa type 2B (ARCL2B) is a rare genetic connective tissue disorder characterized by wrinkled inelastic skin, intellectual disability, growth retardation, developmental delay, skeletal abnormalities, and facial dysmorphism. Recently, PYCR1, encoding the pyrroline-5-carboxylate reductase 1, was reported as the first gene involved in ARCL2B. In this study, using whole exome sequencing, we identified a homozygous PYCR1 missense mutation, c.722C\textgreaterA; p.Ala241Asp, in an Iranian male patient. Our report expands the clinical spectrum of PYCR1 mutations. Furthermore, this study shows that whole exome sequencing could serve as a viable diagnostic approach to identify the etiology of rare genetic diseases. © 2019, Journal of Comprehensive Pediatrics.

Item Type: Article
Keywords: Autosomal Recessive Cutis Laxa Type 2B,PYCR1,Whole Exome Sequencing
Subjects: QU Biochemistry. Cell Biology and Genetics > QU 300-560 Cell Biology and Genetics
Divisions: Education Vice-Chancellor Department > Faculty of Medicine > Department of Basic Science > Department of Molecular Medicine and Genetics
Journal or Publication Title: Journal of Comprehensive Pediatrics
Abstract and Indexing: Scopus
Quartile : Q4
Volume: 10
Number: 4
Identification Number: https://doi.org/10.5812/compreped.86392
ISSN: 2251-8150
Depositing User: خانم فائزه مظفری
URI: http://repository.zums.ac.ir/id/eprint/5734

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