Targeted next‑generation sequencing identifies two novel COL2A1 gene mutations in Stickler syndrome with bilateral retinal detachment

International Journal of Molecular Medicine
Xinhua HuangLin Lu

Abstract

Stickler syndrome is a group of inherited connective tissue disorders characterized by distinctive facial and ocular abnormalities, hearing loss and early‑onset arthritis. The aim of the present study was to investigate the genetic changes in two Chinese patients with Stickler syndrome, manifested as bilateral retinal detachment and peripheral retinal degeneration. Complete ophthalmic examinations, including best‑corrected visual acuity, slit‑lamp examination and fundus examination, were performed. Genomic DNA was extracted from leukocytes of the peripheral blood collected from the patients, their unaffected family members and 200 unrelated control subjects from the same population. Next‑generation sequencing of established genes associated with ocular disease was performed. A heterozygous collagen type II α1 chain (COL2A1) mutation c.1310G>C (p.R437P) in exon 21 was identified in Family 1 and a heterozygous COL2A1 mutation c.2302‑1G>A in intron 34 was identified in Family 2. The functional effects of the mutations were assessed by polymorphism phenotyping (PolyPhen) and sorting intolerant from tolerant (SIFT) analysis. The c.1310G>C mutation was predicted to damage protein structure and function, and the c.2302‑1G>A mutation w...Continue Reading

References

Jan 1, 1992·Eye·J E Scott
Nov 1, 1990·Journal of Pediatric Orthopedics·J T Bennett, S W McMurray
Jan 1, 1995·Annual Review of Biochemistry·D J Prockop, K I Kivirikko
Sep 1, 1994·Human Molecular Genetics·H G BrunnerE C Mariman
Nov 1, 1996·American Journal of Ophthalmology·M C WilsonE H Zackai
Nov 1, 1996·The British Journal of Ophthalmology·Y WatanabeE Adachi-Usami
Nov 14, 2002·American Journal of Ophthalmology·David W Parke
Sep 10, 2005·American Journal of Medical Genetics. Part a·Peter S RoseClair A Francomano
Feb 24, 2007·American Journal of Medical Genetics. Part a·Alan AngMartin Snead
Aug 7, 2007·Ophthalmology·Alan AngMartin P Snead
Sep 3, 2008·Ophthalmology·Bill AylwardMiriam Minihan
Oct 11, 2008·ANZ Journal of Surgery·Kai H Lee, Peter Hayward
Feb 25, 2010·European Journal of Human Genetics : EJHG·Kristien P HoornaertGeert R Mortier
Apr 1, 2010·Nature Methods·Ivan A AdzhubeiShamil R Sunyaev
Mar 20, 2012·Journal of Plastic, Reconstructive & Aesthetic Surgery : JPRAS·Rodrigo Badotti AntunesRaul Gonçalves Paula
Mar 27, 2015·European Journal of Pediatrics·Salvatore SavastaAlberto Verrotti
Mar 31, 2015·Archivos de la Sociedad Española de Oftalmología·F VilaplanaS Mojal
Oct 8, 2015·Human Mutation·Mouna Barat-HouariIsabelle Touitou
Oct 16, 2015·Indian Journal of Ophthalmology·Pukhraj RishiEkta Rishi
Jul 14, 2016·Human Genome Variation·Hiroyuki KondoShunji Kusaka
May 31, 2017·Ophthalmic Genetics·Philip AlexanderMartin Snead

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Citations

Nov 19, 2019·Acta Ophthalmologica·Dan-Dan WangJi-Hong Wu

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Methods Mentioned

BETA
exome sequencing
PCR

Software Mentioned

Seqman
HomoloGene
SIFT
PolyPhen

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