Abstract
The CTNNB1 (β-catenin) gene is well known for its crucial role in cell adhesion and the Wnt-signaling pathway. Previous studies have shown that gain-of-function mutations in the CTNNB1 gene contribute to the occurrence and development of a variety of carcinomas in humans. Recently, de novo, heterozygous, loss-of-function mutations of the CTNNB1 gene were found that partially explain intellectual disability in some patients. Other major clinical symptoms in these patients included microcephaly, abnormal facial features, motor delays, speech impairments, and deformities of the hands and feet. In addition, approximately 75% of these patients had mild visual defects, such as astigmatism, hyperopia, or strabismus PATIENT CONCERNS:: A 15-month-old Chinese boy, presenting with retinal detachment, lens and vitreous opacities, hypertonia of the extremities, mild thumb adduction, microcephaly, and developmental delay, is described. Targeted gene sequencing using an ophthalmic gene panel was performed to test for familial exudative vitreoretinopathy; however, the pathogenic gene was not found. Genomic DNA analysis was performed to search for causing mutations. Whole-exome sequencing revealed a novel nonsense variation in exon 11 of the CT...Continue Reading
References
Dec 10, 1993·Science·M Peifer
Feb 20, 2007·Current Opinion in Cell Biology·Riccardo Fodde, Thomas Brabletz
Mar 13, 2008·Structure·Yi XingWenqing Xu
Sep 4, 2008·Genes & Development·Tamara GrigoryanWalter Birchmeier
Feb 26, 2010·Cold Spring Harbor Perspectives in Biology·Julian Heuberger, Walter Birchmeier
Mar 22, 2012·The International Journal of Biochemistry & Cell Biology·Cara JamiesonBeric R Henderson
Apr 13, 2012·Nature·Brian J O'RoakEvan E Eichler
Oct 5, 2012·The New England Journal of Medicine·Joep de LigtLisenka E L M Vissers
Mar 13, 2014·The Journal of Clinical Investigation·Valter TucciPatrick M Nolan
Mar 29, 2014·American Journal of Medical Genetics. Part a·Estelle DubrucPatrick Edery
Oct 20, 2014·Human Genetics·Alma KuechlerDagmar Wieczorek
Mar 6, 2015·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Sue RichardsUNKNOWN ACMG Laboratory Quality Assurance Committee
Mar 5, 2016·Molecular Medicine Reports·Niu LiJian Wang
Mar 13, 2016·BMC Neurology·Anna Winczewska-WiktorDorota Monies
Dec 14, 2016·The New England Journal of Medicine·Jennifer E PoseyJames R Lupski
Dec 15, 2016·Frontiers in Cell and Developmental Biology·Naoko Fujimura
Citations
Jan 15, 2019·Investigative Ophthalmology & Visual Science·Wenmin SunQingjiong Zhang
Feb 11, 2020·Ophthalmic Genetics·Razek Georges CoussaElias I Traboulsi
Sep 19, 2019·Graefe's Archive for Clinical and Experimental Ophthalmology = Albrecht Von Graefes Archiv Für Klinische Und Experimentelle Ophthalmologie·Maud ValensiMarc M Abitbol
Apr 1, 2019·Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology·Hui WangMing Qi
Sep 25, 2018·PeerJ·Ling WanXiaoming Chen
Feb 11, 2020·Frontiers in Genetics·Hua-Tao WuJing Liu
Dec 23, 2020·Molecular Genetics & Genomic Medicine·Linda Z RossettiMichael F Wangler
Oct 30, 2020·International Medical Case Reports Journal·Willem M A VerhoevenMarjolein H Willemsen
Jan 12, 2021·Frontiers in Pediatrics·Zhongling Ke, Yanhui Chen
May 29, 2020·Heliyon·Anastasia LevchenkoRaul R Gainetdinov
Sep 25, 2021·American Journal of Medical Genetics. Part a·Stephanie HoIvan Fai-Man Lo
Sep 29, 2021·American Journal of Ophthalmology·Junxing YangQingjiong Zhang