Exome sequencing identifies a de novo mutation of CTNNB1 gene in a patient mainly presented with retinal detachment, lens and vitreous opacities, microcephaly, and developmental delay: Case report and literature review

Medicine
Niu LiJian Wang

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

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Citations

Jan 15, 2019·Investigative Ophthalmology & Visual Science·Wenmin SunQingjiong Zhang
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
Oct 30, 2020·International Medical Case Reports Journal·Willem M A VerhoevenMarjolein H Willemsen
Sep 25, 2021·American Journal of Medical Genetics. Part a·Stephanie HoIvan Fai-Man Lo

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Methods Mentioned

BETA
cesarean section
targeted gene sequencing
Exome Sequencing

Software Mentioned

Illumina HCS
HiSeq control
PolyPhen
MaxEntScan
Real
SIFT
Ingenuity Variant Analysis (
NextGENe

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