Table 1.

Summary of reported genetic modifications in various neurodegenerative and neurodevelopmental disorders.

Modification	Description	Ref
Alzheimer’s Disease
rs17183619	GWAS-Statistical interaction with APP SNP rs2096488	(Jun et al. 2012)
rs61754599	GWAS-Missense mutation (G810R) altered δ-catenin localization and increased secreted AB1-42 in HEK293 cells	(Jun et al. 2012)
Cri-du-chat
CNV	Case study: eight-year-old African-American female- Promoter region and alternative exons 1–14 are duplicated and exons 15–68 of δ-catenin are deleted.	(Sardina et al. 2014)
Hemizygous deletion	Case studies: correlation analysis from three previous reports- Hemizygous deletion within 5p15.2pter leads to severe mental retardation	(Medina et al. 2000)
Deletion (knockout)	δ-cat−/− mice were viable but showed decline in cognitive functions and significantly reduced N-cadherin and PSD95 protein level.	(Israely et al. 2004)
Autism
G34S, P189L, P224L, R454H, Q507P	Case study: female-enriched multiplex families- Hypomorphic mutations found in patients and conserved in zebrafish embryos model	(Turner et al. 2015)
CNV	Case studies: reexamination of previously reported cases and literature review- Ten deletions and two duplications, seven overlapping one or more exons. Deletions leading to loss-of-function suggest happloinsufficiency.	(Turner et al. 2015)
Schizophrenia
CNV	Case studies: patients from the Netherlands- CNV of seven genes in 5p15.2 with a breakpoint disrupting the terminal portion of CTNND2 gene in a female patient.	(Vrijenhoek et al. 2008)
rs6873547	Case study: patients from the Netherlands- CTNND2 SNP with the strongest association with Schizophrenia. Top ten SNPs for anxiety disorder, major depressive disorder, and bipolar disorder were also reported.	(Nivard et al. 2014)
Intellectual Disability
Translocation breakpoint	Case study: mother and daughter- balanced translocation of t(1;8)(p22;q24) and t(5;18)(p15;q11) resulted in problems with learning (dyslexia, attention deficit, speech delay). The breakpoint was located in intron 9 of the δ-catenin resulting in a loss-of-function.	(Hofmeister et al. 2015)
Deletion of exons 12–18	Case study: fourteen-year-old male- Presented similar phenotype with more pronounced learning disabilities and dyslexia.	(Hofmeister et al. 2015)
CNV	Case study: two males with delayed developmental milestones- intragenic deletion leads to mild intellectual disability.	(Belcaro et al. 2015)
Myopia
rs1479617	Case study: patients from China- This SNP and 11q21.1 genomic region significantly differed between the pathological myopia and control groups of Chinese patients.	(Yu et al. 2012)
rs12716080 rs6885224	Meta-analysis - Chinese and Japanese patients revealed a strong correlation with high myopia.	(Liu and Zhang 2014)
rs6885224	Case-control series study- displayed protective properties when compared in Chinese patients with high or moderate myopia with controls.	(Lu et al. 2011)