A 3.2 Mb deletion on 18q12 in a patient with childhood autism and high-grade myopia.

Mette Gilling; Marlene Briciet Lauritsen; Morten Møller; Karen Friis Henriksen; Astrid Vicente; Guiomar Oliveira; Christina Cintin; Hans Eiberg; Paal Skyt Andersen; Ole Mors; Thomas Rosenberg; Karen Brøndum-Nielsen; Rodney M J Cotterill; Claes Lundsteen; Hans-Hilger Ropers; Reinhard Ullmann; Iben Bache; Zeynep Tümer; Niels Tommerup

doi:10.1038/sj.ejhg.5201985

A 3.2 Mb deletion on 18q12 in a patient with childhood autism and high-grade myopia.

Mette Gilling, Marlene Briciet Lauritsen, Morten Møller, Karen Friis Henriksen, Astrid Vicente, Guiomar Oliveira, Christina Cintin, Hans Eiberg, Paal Skyt Andersen, Ole Mors, Thomas Rosenberg, Karen Brøndum-Nielsen, Rodney M J Cotterill, Claes Lundsteen, Hans-Hilger Ropers, Reinhard Ullmann, Iben Bache, Zeynep Tümer, Niels Tommerup

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Abstract

Autism spectrum disorders (ASDs) are a heterogeneous group of disorders with unknown aetiology. Even though ASDs are suggested to be among the most heritable complex disorders, only a few reproducible mutations leading to susceptibility for ASD have been identified. In an attempt to identify ASD susceptibility genes through chromosome rearrangements, we investigated a female patient with childhood autism and high-grade myopia, and an apparently balanced de novo translocation, t(5;18)(q34;q12.2). Further analyses revealed a 3.2 Mb deletion encompassing 17 genes at the 18q break point and an additional deletion of 1.27 Mb containing two genes on chromosome 4q35. Q-PCR analysis of 14 of the 17 genes deleted on chromosome 18 showed that 11 of these genes were expressed in the brain, suggesting that haploinsufficiency of one or more genes may have contributed to the childhood autism phenotype of the patient. Identification of multiple genetic changes in this patient with childhood autism agrees with the most frequently suggested genetic model of ASDs as complex, polygenic disorders.

Original language	English
Journal	European Journal of Human Genetics
Volume	16
Issue number	3
Pages (from-to)	312-9
Number of pages	7
ISSN	1018-4813
DOIs	https://doi.org/10.1038/sj.ejhg.5201985
Publication status	Published - 2008

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Gilling, M., Lauritsen, M. B., Møller, M., Henriksen, K. F., Vicente, A., Oliveira, G., Cintin, C., Eiberg, H., Andersen, P. S., Mors, O., Rosenberg, T., Brøndum-Nielsen, K., Cotterill, R. M. J., Lundsteen, C., Ropers, H-H., Ullmann, R., Bache, I., Tümer, Z., & Tommerup, N. (2008). A 3.2 Mb deletion on 18q12 in a patient with childhood autism and high-grade myopia. European Journal of Human Genetics, 16(3), 312-9. https://doi.org/10.1038/sj.ejhg.5201985

Gilling, M, Lauritsen, MB, Møller, M, Henriksen, KF, Vicente, A, Oliveira, G, Cintin, C, Eiberg, H, Andersen, PS, Mors, O, Rosenberg, T, Brøndum-Nielsen, K, Cotterill, RMJ, Lundsteen, C, Ropers, H-H, Ullmann, R, Bache, I , Tümer, Z & Tommerup, N 2008, 'A 3.2 Mb deletion on 18q12 in a patient with childhood autism and high-grade myopia.', European Journal of Human Genetics, vol. 16, no. 3, pp. 312-9. https://doi.org/10.1038/sj.ejhg.5201985

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title = "A 3.2 Mb deletion on 18q12 in a patient with childhood autism and high-grade myopia.",

abstract = "Autism spectrum disorders (ASDs) are a heterogeneous group of disorders with unknown aetiology. Even though ASDs are suggested to be among the most heritable complex disorders, only a few reproducible mutations leading to susceptibility for ASD have been identified. In an attempt to identify ASD susceptibility genes through chromosome rearrangements, we investigated a female patient with childhood autism and high-grade myopia, and an apparently balanced de novo translocation, t(5;18)(q34;q12.2). Further analyses revealed a 3.2 Mb deletion encompassing 17 genes at the 18q break point and an additional deletion of 1.27 Mb containing two genes on chromosome 4q35. Q-PCR analysis of 14 of the 17 genes deleted on chromosome 18 showed that 11 of these genes were expressed in the brain, suggesting that haploinsufficiency of one or more genes may have contributed to the childhood autism phenotype of the patient. Identification of multiple genetic changes in this patient with childhood autism agrees with the most frequently suggested genetic model of ASDs as complex, polygenic disorders.",

author = "Mette Gilling and Lauritsen, {Marlene Briciet} and Morten M{\o}ller and Henriksen, {Karen Friis} and Astrid Vicente and Guiomar Oliveira and Christina Cintin and Hans Eiberg and Andersen, {Paal Skyt} and Ole Mors and Thomas Rosenberg and Karen Br{\o}ndum-Nielsen and Cotterill, {Rodney M J} and Claes Lundsteen and Hans-Hilger Ropers and Reinhard Ullmann and Iben Bache and Zeynep T{\"u}mer and Niels Tommerup",

note = "Keywords: Adult; Autistic Disorder; Child; Chromosomes, Human, Pair 18; Female; Humans; In Situ Hybridization; Myopia; Reverse Transcriptase Polymerase Chain Reaction; Sequence Deletion",

year = "2008",

doi = "10.1038/sj.ejhg.5201985",

language = "English",

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pages = "312--9",

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T1 - A 3.2 Mb deletion on 18q12 in a patient with childhood autism and high-grade myopia.

AU - Gilling, Mette

AU - Lauritsen, Marlene Briciet

AU - Møller, Morten

AU - Henriksen, Karen Friis

AU - Vicente, Astrid

AU - Oliveira, Guiomar

AU - Cintin, Christina

AU - Eiberg, Hans

AU - Andersen, Paal Skyt

AU - Mors, Ole

AU - Rosenberg, Thomas

AU - Brøndum-Nielsen, Karen

AU - Cotterill, Rodney M J

AU - Lundsteen, Claes

AU - Ropers, Hans-Hilger

AU - Ullmann, Reinhard

AU - Bache, Iben

AU - Tümer, Zeynep

AU - Tommerup, Niels

N1 - Keywords: Adult; Autistic Disorder; Child; Chromosomes, Human, Pair 18; Female; Humans; In Situ Hybridization; Myopia; Reverse Transcriptase Polymerase Chain Reaction; Sequence Deletion

PY - 2008

Y1 - 2008

N2 - Autism spectrum disorders (ASDs) are a heterogeneous group of disorders with unknown aetiology. Even though ASDs are suggested to be among the most heritable complex disorders, only a few reproducible mutations leading to susceptibility for ASD have been identified. In an attempt to identify ASD susceptibility genes through chromosome rearrangements, we investigated a female patient with childhood autism and high-grade myopia, and an apparently balanced de novo translocation, t(5;18)(q34;q12.2). Further analyses revealed a 3.2 Mb deletion encompassing 17 genes at the 18q break point and an additional deletion of 1.27 Mb containing two genes on chromosome 4q35. Q-PCR analysis of 14 of the 17 genes deleted on chromosome 18 showed that 11 of these genes were expressed in the brain, suggesting that haploinsufficiency of one or more genes may have contributed to the childhood autism phenotype of the patient. Identification of multiple genetic changes in this patient with childhood autism agrees with the most frequently suggested genetic model of ASDs as complex, polygenic disorders.

AB - Autism spectrum disorders (ASDs) are a heterogeneous group of disorders with unknown aetiology. Even though ASDs are suggested to be among the most heritable complex disorders, only a few reproducible mutations leading to susceptibility for ASD have been identified. In an attempt to identify ASD susceptibility genes through chromosome rearrangements, we investigated a female patient with childhood autism and high-grade myopia, and an apparently balanced de novo translocation, t(5;18)(q34;q12.2). Further analyses revealed a 3.2 Mb deletion encompassing 17 genes at the 18q break point and an additional deletion of 1.27 Mb containing two genes on chromosome 4q35. Q-PCR analysis of 14 of the 17 genes deleted on chromosome 18 showed that 11 of these genes were expressed in the brain, suggesting that haploinsufficiency of one or more genes may have contributed to the childhood autism phenotype of the patient. Identification of multiple genetic changes in this patient with childhood autism agrees with the most frequently suggested genetic model of ASDs as complex, polygenic disorders.

U2 - 10.1038/sj.ejhg.5201985

DO - 10.1038/sj.ejhg.5201985

M3 - Journal article

C2 - 18183041

SN - 1018-4813

VL - 16

SP - 312

EP - 319

JO - European Journal of Human Genetics

JF - European Journal of Human Genetics

IS - 3

ER -

A 3.2 Mb deletion on 18q12 in a patient with childhood autism and high-grade myopia.

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