Two rare deletions upstream of the NRXN1 gene (2p16.3) affecting the non-coding mRNA AK127244 segregate with diverse psychopathological phenotypes in a family

L. T. T. Duong, L. K. Hoeffding, K. B. Petersen, Charlotte Bendix Knudsen, J. H. Thygesen, L. L. Klitten, N. Tommerup, A. Ingason, T. Werge

Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

Resumé

CNVs spanning the 2p16.3 (NRXN1) and the 15q11.2 gene rich region have been associated with severe neuropsychiatric disorders including schizophrenia. Recently, studies have also revealed that CNVs in non-coding regions play an essential role in genomic variability in addition to disease susceptibility. In this study, we describe a family affected by a wide range of psychiatric disorders including early onset schizophrenia, schizophreniform disorder, and affective disorders. Microarray analysis identified two rare deletions immediately upstream of the NRXN1 gene affecting the non-coding mRNA AK127244 in addition to the pathogenic 15q11.2 deletion in distinct family members. The two deletions upstream of the NRXN1 gene were found to segregate with psychiatric disorders in the family and further similar deletions have been observed in patients diagnosed with autism spectrum disorder. Thus, we suggest that non-coding regions upstream of the NRXN1 gene affecting AK127244 might (as NRXN1) contain susceptibility regions for a wide spectrum of neuropsychiatric disorders. (C) 2015 Elsevier Masson SAS. All rights reserved.
OriginalsprogEngelsk
TidsskriftEuropean Journal of Medical Genetics
Vol/bind58
Udgave nummer12
Sider (fra-til)650-653
ISSN1769-7212
DOI
StatusUdgivet - 2015

Bibliografisk note

Lundbeck Foundation [R34-A3243]; Danish National Advanced Technology Foundation [001-2009-2]; Danish Council for Independent Research in Medical Sciences [FSS-09-11]; Danish Psychiatric Research Foundation; European Union [LSHM-CT-2006-037761]; Danish National Research Foundation [25-22-48] 0

Emneord

  • Deletions 2p16.3 (NRXN1) deletion 15q11.2 deletion Schizophrenia Family study AK127244 Non-coding regions SCHIZOPHRENIA DISORDERS NEUREXIN DISEASE RISK IDENTIFICATION MICRODELETIONS NEUROLIGIN VARIANTS SPECTRUM

Citer dette

Duong, L. T. T. ; Hoeffding, L. K. ; Petersen, K. B. ; Knudsen, Charlotte Bendix ; Thygesen, J. H. ; Klitten, L. L. ; Tommerup, N. ; Ingason, A. ; Werge, T. / Two rare deletions upstream of the NRXN1 gene (2p16.3) affecting the non-coding mRNA AK127244 segregate with diverse psychopathological phenotypes in a family. I: European Journal of Medical Genetics. 2015 ; Bind 58, Nr. 12. s. 650-653.
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title = "Two rare deletions upstream of the NRXN1 gene (2p16.3) affecting the non-coding mRNA AK127244 segregate with diverse psychopathological phenotypes in a family",
abstract = "CNVs spanning the 2p16.3 (NRXN1) and the 15q11.2 gene rich region have been associated with severe neuropsychiatric disorders including schizophrenia. Recently, studies have also revealed that CNVs in non-coding regions play an essential role in genomic variability in addition to disease susceptibility. In this study, we describe a family affected by a wide range of psychiatric disorders including early onset schizophrenia, schizophreniform disorder, and affective disorders. Microarray analysis identified two rare deletions immediately upstream of the NRXN1 gene affecting the non-coding mRNA AK127244 in addition to the pathogenic 15q11.2 deletion in distinct family members. The two deletions upstream of the NRXN1 gene were found to segregate with psychiatric disorders in the family and further similar deletions have been observed in patients diagnosed with autism spectrum disorder. Thus, we suggest that non-coding regions upstream of the NRXN1 gene affecting AK127244 might (as NRXN1) contain susceptibility regions for a wide spectrum of neuropsychiatric disorders. (C) 2015 Elsevier Masson SAS. All rights reserved.",
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author = "Duong, {L. T. T.} and Hoeffding, {L. K.} and Petersen, {K. B.} and Knudsen, {Charlotte Bendix} and Thygesen, {J. H.} and Klitten, {L. L.} and N. Tommerup and A. Ingason and T. Werge",
note = "Lundbeck Foundation [R34-A3243]; Danish National Advanced Technology Foundation [001-2009-2]; Danish Council for Independent Research in Medical Sciences [FSS-09-11]; Danish Psychiatric Research Foundation; European Union [LSHM-CT-2006-037761]; Danish National Research Foundation [25-22-48] 0",
year = "2015",
doi = "10.1016/j.ejmg.2015.11.004",
language = "English",
volume = "58",
pages = "650--653",
journal = "European Journal of Medical Genetics",
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Two rare deletions upstream of the NRXN1 gene (2p16.3) affecting the non-coding mRNA AK127244 segregate with diverse psychopathological phenotypes in a family. / Duong, L. T. T.; Hoeffding, L. K.; Petersen, K. B.; Knudsen, Charlotte Bendix; Thygesen, J. H.; Klitten, L. L.; Tommerup, N.; Ingason, A.; Werge, T.

I: European Journal of Medical Genetics, Bind 58, Nr. 12, 2015, s. 650-653.

Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

TY - JOUR

T1 - Two rare deletions upstream of the NRXN1 gene (2p16.3) affecting the non-coding mRNA AK127244 segregate with diverse psychopathological phenotypes in a family

AU - Duong, L. T. T.

AU - Hoeffding, L. K.

AU - Petersen, K. B.

AU - Knudsen, Charlotte Bendix

AU - Thygesen, J. H.

AU - Klitten, L. L.

AU - Tommerup, N.

AU - Ingason, A.

AU - Werge, T.

N1 - Lundbeck Foundation [R34-A3243]; Danish National Advanced Technology Foundation [001-2009-2]; Danish Council for Independent Research in Medical Sciences [FSS-09-11]; Danish Psychiatric Research Foundation; European Union [LSHM-CT-2006-037761]; Danish National Research Foundation [25-22-48] 0

PY - 2015

Y1 - 2015

N2 - CNVs spanning the 2p16.3 (NRXN1) and the 15q11.2 gene rich region have been associated with severe neuropsychiatric disorders including schizophrenia. Recently, studies have also revealed that CNVs in non-coding regions play an essential role in genomic variability in addition to disease susceptibility. In this study, we describe a family affected by a wide range of psychiatric disorders including early onset schizophrenia, schizophreniform disorder, and affective disorders. Microarray analysis identified two rare deletions immediately upstream of the NRXN1 gene affecting the non-coding mRNA AK127244 in addition to the pathogenic 15q11.2 deletion in distinct family members. The two deletions upstream of the NRXN1 gene were found to segregate with psychiatric disorders in the family and further similar deletions have been observed in patients diagnosed with autism spectrum disorder. Thus, we suggest that non-coding regions upstream of the NRXN1 gene affecting AK127244 might (as NRXN1) contain susceptibility regions for a wide spectrum of neuropsychiatric disorders. (C) 2015 Elsevier Masson SAS. All rights reserved.

AB - CNVs spanning the 2p16.3 (NRXN1) and the 15q11.2 gene rich region have been associated with severe neuropsychiatric disorders including schizophrenia. Recently, studies have also revealed that CNVs in non-coding regions play an essential role in genomic variability in addition to disease susceptibility. In this study, we describe a family affected by a wide range of psychiatric disorders including early onset schizophrenia, schizophreniform disorder, and affective disorders. Microarray analysis identified two rare deletions immediately upstream of the NRXN1 gene affecting the non-coding mRNA AK127244 in addition to the pathogenic 15q11.2 deletion in distinct family members. The two deletions upstream of the NRXN1 gene were found to segregate with psychiatric disorders in the family and further similar deletions have been observed in patients diagnosed with autism spectrum disorder. Thus, we suggest that non-coding regions upstream of the NRXN1 gene affecting AK127244 might (as NRXN1) contain susceptibility regions for a wide spectrum of neuropsychiatric disorders. (C) 2015 Elsevier Masson SAS. All rights reserved.

KW - Deletions 2p16.3 (NRXN1) deletion 15q11.2 deletion Schizophrenia Family study AK127244 Non-coding regions SCHIZOPHRENIA DISORDERS NEUREXIN DISEASE RISK IDENTIFICATION MICRODELETIONS NEUROLIGIN VARIANTS SPECTRUM

U2 - 10.1016/j.ejmg.2015.11.004

DO - 10.1016/j.ejmg.2015.11.004

M3 - Journal article

C2 - 26563496

VL - 58

SP - 650

EP - 653

JO - European Journal of Medical Genetics

JF - European Journal of Medical Genetics

SN - 1769-7212

IS - 12

ER -