Research & Literature

The 15q13.3 deletion syndrome: Deficient α(7)-containing nicotinic acetylcholine receptor-mediated neurotransmission in the pathogenesis of neurodevelopmental disorders.

Deutsch SI, Burket JA, Benson AD, Urbano MR

Progress in neuro-psychopharmacology & biological psychiatry 2016; (64()):109-17.

Evaluation of multiple putative risk alleles within the 15q13.3 region for genetic generalized epilepsy.

Damiano JA, Mullen SA, Hildebrand MS, et al.

Epilepsy research 2015; (117()):70-3.

The complex behavioral phenotype of 15q13.3 microdeletion syndrome.

Ziats MN, Goin-Kochel RP, Berry LN, et al.

Genetics in medicine : official journal of the American College of Medical Genetics 2016; (18(11)):1111-1118 doi:10.1038/gim.2016.9.

15q13.3 duplication in two patients with childhood-onset schizophrenia.

Zhou D, Gochman P, Broadnax DD, et al.

American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics 2016; (171(6)):777-83 doi:10.1002/ajmg.b.32439.

Electrophysiological evidence for defective fast-spiking GABAergic neurones in a schizophrenia model.

Nakazawa K

Acta physiologica (Oxford, England) 2017; (220(1)):14-15 doi:10.1111/apha.12817.

Functional Consequences of CHRNA7 Copy-Number Alterations in Induced Pluripotent Stem Cells and Neural Progenitor Cells.

Gillentine MA, Yin J, Bajic A, et al.

American journal of human genetics 2017; (101(6)):874-887 doi:10.1016/j.ajhg.2017.09.024.

An estimation of the prevalence of genomic disorders using chromosomal microarray data.

Gillentine MA, Lupo PJ, Stankiewicz P, Schaaf CP

Journal of human genetics 2018; (63(7)):795-801 doi:10.1038/s10038-018-0451-x.

Interactive effects between hemizygous 15q13.3 microdeletion and peripubertal stress on adult behavioral functions.

Giovanoli S, Werge TM, Mortensen PB, et al.

Neuropsychopharmacology : official publication of the American College of Neuropsychopharmacology 2019; (44(4)):703-710 doi:10.1038/s41386-018-0189-3.

Atypical Prader-Willi and 15q13.3 Microdeletion Syndromes in a Patient with an Unbalanced Translocation.

Colovati MES, Grossi BM, Nunes GD, et al.

Cytogenetic and genome research 2019; (158(4)):192-198 doi:10.1159/000501753.

Central and peripheral immune responses to low-dose lipopolysaccharide in a mouse model of the 15q13.3 microdeletion.

Halawa AA, Rees KA, McCamy KM, Winzer-Serhan UH

Cytokine 2020; (126()):154879 doi:10.1016/j.cyto.2019.154879.

Report of the first patient with a homozygous OTUD7A variant responsible for epileptic encephalopathy and related proteasome dysfunction.

Garret P, Ebstein F, Delplancq G, et al.

Clinical genetics 2020; (97(4)):567-575 doi:10.1111/cge.13709.

Molecular, physiological and behavioral characterization of the heterozygous Df[h15q13]/+ mouse model associated with the human 15q13.3 microdeletion syndrome.

Rees KA, Halawa AA, Consuegra-Garcia D, et al.

Brain research 2020; (1746()):147024 doi:10.1016/j.brainres.2020.147024.

Population prevalence and inheritance pattern of recurrent CNVs associated with neurodevelopmental disorders in 12,252 newborns and their parents.

Smajlagić D, Lavrichenko K, Berland S, et al.

European journal of human genetics : EJHG 2021; (29(1)):205-215 doi:10.1038/s41431-020-00707-7.

Network Effects of the 15q13.3 Microdeletion on the Transcriptome and Epigenome in Human-Induced Neurons.

Zhang S, Zhang X, Purmann C, et al.

Biological psychiatry 2021; (89(5)):497-509 doi:10.1016/j.biopsych.2020.06.021.

FAN1, a DNA Repair Nuclease, as a Modifier of Repeat Expansion Disorders.

Deshmukh AL, Porro A, Mohiuddin M, et al.

Journal of Huntington's disease 2021; (10(1)):95-122 doi:10.3233/JHD-200448.

Chromosome 15q BP4-BP5 Deletion in a Girl with Nocturnal Frontal Lobe Epilepsy, Migraine, Circumscribed Hypertrichosis, and Language Impairment.

Pavone P, Pappalardo XG, Ohazuruike UNN, et al.

Journal of epilepsy research 2020; (10(2)):84-91 doi:10.14581/jer.20014.

Rapid-Onset Obesity Due to Impulsive Food-Seeking Behavior in a Puerto Rican Child With CHRNA7 15q13.3 Microdeletion.

Jiménez BL, Carlo S, De Jesús Rojas W

Cureus 2021; (13(3)):e14012 doi:10.7759/cureus.14012.

Targeted therapy with galantamine in a pediatric patient with 15q13.3 deletion syndrome.

Casas-Alba D, Nolasco GA, Díez-Juan M, et al.

American journal of medical genetics. Part A 2021; (185(12)):3897-3899 doi:10.1002/ajmg.a.62425.

The Phenotypic Spectrum of 15q13.3 Region Duplications: Report of 5 Patients.

Budisteanu M, Papuc SM, Streata I, et al.

Genes 2021; (12(7)) doi:10.3390/genes12071025.

The spectrum of epilepsy in children with 15q13.3 microdeletion syndrome.

Whitney R, Nair A, McCready E, et al.

Seizure 2021; (92()):221-229 doi:10.1016/j.seizure.2021.09.016.

Loss of function of OTUD7A in the schizophrenia- associated 15q13.3 deletion impairs synapse development and function in human neurons.

Kozlova A, Zhang S, Kotlar AV, et al.

American journal of human genetics 2022; (109(8)):1500-1519 doi:10.1016/j.ajhg.2022.07.001.

Heterozygous Deletion of Chromosome 15q13.3 in a Boy with Developmental Regression, Global Developmental Delay, Hypotonia, and Short Stature.

Strauss AM, Buhle AC, Finkler DM

Pediatric reports 2022; (14(4)):528-532 doi:10.3390/pediatric14040061.

Impaired OTUD7A-dependent Ankyrin regulation mediates neuronal dysfunction in mouse and human models of the 15q13.3 microdeletion syndrome.

Unda BK, Chalil L, Yoon S, et al.

Molecular psychiatry 2023; (28(4)):1747-1769 doi:10.1038/s41380-022-01937-5.

The OTUD7A-Ankyrin pathway: a newly identified disease mechanism for the 15q13.3 microdeletion disorder.

Scheefhals N, Ciptasari U, van Hugte EJH, Nadif Kasri N

Molecular psychiatry 2023; (28(4)):1400-1401 doi:10.1038/s41380-023-01965-9.

Evaluation of Individuals with Non-Syndromic Global Developmental Delay and Intellectual Disability.

AlMutiri R, Malta M, Shevell MI, Srour M

Children (Basel, Switzerland) 2023; (10(3)) doi:10.3390/children10030414.

Case reports of two siblings with autism spectrum disorder and 15q13.3 deletions.

Furukawa S, Kushima I, Aleksic B, Ozaki N

Neuropsychopharmacology reports 2023; (43(3)):462-466 doi:10.1002/npr2.12340.

Prenatal ultrasound phenotype of fetuses with recurrent 1q21.1 deletion and duplication syndrome.

Wang F, Peng H, Lou G, et al.

Frontiers in pediatrics 2024; (12()):1504122 doi:10.3389/fped.2024.1504122.

Focal refractory epilepsy associated to 15q13.3 microduplication.

García Gómez E, San-Juan D, Romero Valencia J, Ortega-Arenas CJ

BMJ case reports 2025; (18(3)) doi:10.1136/bcr-2024-264671.

Genetic counseling of prenatally detected familial 15q13.2q13.3 microdeletion encompassing CHRNA7 and OTUD7A with asymptomatic carriers in the family.

Chen CP, Wu FT, Pan YT, et al.

Taiwanese journal of obstetrics & gynecology 2025; (64(2)):361-363 doi:10.1016/j.tjog.2024.12.015.

Prenatal diagnosis of 15q13.3 deletion and duplication syndrome: what do we tell the prospective parents?

Luo X, Liu H, Chen X, et al.

Archives of gynecology and obstetrics 2025; (312(6)):1991-2000 doi:10.1007/s00404-025-08150-z.