Hybridisation-based resequencing of 17 X-linked intellectual disability genes in 135 patients reveals novel mutations in ATRX, SLC6A8 and PQBP1

Lars R. Jensen; Wei Chen; Bettina Moser; Bettina Lipkowitz; Christopher Schroeder; Luciana Musante; Andreas Tzschach; Vera M. Kalscheuer; Ilaria Meloni; Martine Raynaud; Hilde Van Esch; Jamel Chelly; Arjan P.M. De Brouwer; Anna Hackett; Sigrun Van Der Haar; Wolfram Henn; Jozef Gecz; Olaf Riess; Michael Bonin; Richard Reinhardt; Hans Hilger Ropers; Andreas W. Kuss

doi:10.1038/ejhg.2010.244

Hybridisation-based resequencing of 17 X-linked intellectual disability genes in 135 patients reveals novel mutations in ATRX, SLC6A8 and PQBP1

Lars R. Jensen, Wei Chen, Bettina Moser, Bettina Lipkowitz, Christopher Schroeder, Luciana Musante, Andreas Tzschach, Vera M. Kalscheuer, Ilaria Meloni, Martine Raynaud, Hilde Van Esch, Jamel Chelly, Arjan P.M. De Brouwer, Anna Hackett, Sigrun Van Der Haar, Wolfram Henn, Jozef Gecz, Olaf Riess, Michael Bonin, Richard ReinhardtHans Hilger Ropers, Andreas W. Kuss

Research output: Contribution to journal › Article › peer-review

18 Citations (Scopus)

Abstract

X-linked intellectual disability (XLID), also known as X-linked mental retardation, is a highly genetically heterogeneous condition for which mutations in 90 different genes have been identified. In this study, we used a custom-made sequencing array based on the Affymetrix 50k platform for mutation screening in 17 known XLID genes in patients from 135 families and found eight single-nucleotide changes that were absent in controls. For four mutations affecting ATRX (p.1761MT), PQBP1 (p.155RX) and SLC6A8 (p.390PL and p.477SL), we provide evidence for a functional involvement of these changes in the aetiology of intellectual disability.

Original language	English
Pages (from-to)	717-720
Number of pages	4
Journal	European Journal of Human Genetics
Volume	19
Issue number	6
DOIs	https://doi.org/10.1038/ejhg.2010.244
Publication status	Published or Issued - Jun 2011
Externally published	Yes

Keywords

X-linked intellectual disability
X-linked mental retardation
array-based resequencing
automated PCR
mutation analysis

ASJC Scopus subject areas

Genetics
Genetics(clinical)

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10.1038/ejhg.2010.244

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Jensen, L. R., Chen, W., Moser, B., Lipkowitz, B., Schroeder, C., Musante, L., Tzschach, A., Kalscheuer, V. M., Meloni, I., Raynaud, M., Van Esch, H., Chelly, J., De Brouwer, A. P. M., Hackett, A., Van Der Haar, S., Henn, W., Gecz, J., Riess, O., Bonin, M., ... Kuss, A. W. (2011). Hybridisation-based resequencing of 17 X-linked intellectual disability genes in 135 patients reveals novel mutations in ATRX, SLC6A8 and PQBP1. European Journal of Human Genetics, 19(6), 717-720. https://doi.org/10.1038/ejhg.2010.244

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title = "Hybridisation-based resequencing of 17 X-linked intellectual disability genes in 135 patients reveals novel mutations in ATRX, SLC6A8 and PQBP1",

abstract = "X-linked intellectual disability (XLID), also known as X-linked mental retardation, is a highly genetically heterogeneous condition for which mutations in 90 different genes have been identified. In this study, we used a custom-made sequencing array based on the Affymetrix 50k platform for mutation screening in 17 known XLID genes in patients from 135 families and found eight single-nucleotide changes that were absent in controls. For four mutations affecting ATRX (p.1761MT), PQBP1 (p.155RX) and SLC6A8 (p.390PL and p.477SL), we provide evidence for a functional involvement of these changes in the aetiology of intellectual disability.",

keywords = "X-linked intellectual disability, X-linked mental retardation, array-based resequencing, automated PCR, mutation analysis",

author = "Jensen, {Lars R.} and Wei Chen and Bettina Moser and Bettina Lipkowitz and Christopher Schroeder and Luciana Musante and Andreas Tzschach and Kalscheuer, {Vera M.} and Ilaria Meloni and Martine Raynaud and {Van Esch}, Hilde and Jamel Chelly and {De Brouwer}, {Arjan P.M.} and Anna Hackett and {Van Der Haar}, Sigrun and Wolfram Henn and Jozef Gecz and Olaf Riess and Michael Bonin and Richard Reinhardt and Ropers, {Hans Hilger} and Kuss, {Andreas W.}",

note = "Funding Information: We thank Sven Poths for technical assistance. This study was supported by the Max Planck Innovation Fund. Additional funding was provided to HHR by the German Federal Ministry of Education and Research (MRNET 01GS08161-2).",

year = "2011",

month = jun,

doi = "10.1038/ejhg.2010.244",

language = "English",

volume = "19",

pages = "717--720",

journal = "European Journal of Human Genetics",

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Jensen, LR, Chen, W, Moser, B, Lipkowitz, B, Schroeder, C, Musante, L, Tzschach, A, Kalscheuer, VM, Meloni, I, Raynaud, M, Van Esch, H, Chelly, J, De Brouwer, APM, Hackett, A, Van Der Haar, S, Henn, W, Gecz, J, Riess, O, Bonin, M, Reinhardt, R, Ropers, HH & Kuss, AW 2011, 'Hybridisation-based resequencing of 17 X-linked intellectual disability genes in 135 patients reveals novel mutations in ATRX, SLC6A8 and PQBP1', European Journal of Human Genetics, vol. 19, no. 6, pp. 717-720. https://doi.org/10.1038/ejhg.2010.244

TY - JOUR

T1 - Hybridisation-based resequencing of 17 X-linked intellectual disability genes in 135 patients reveals novel mutations in ATRX, SLC6A8 and PQBP1

AU - Jensen, Lars R.

AU - Chen, Wei

AU - Moser, Bettina

AU - Lipkowitz, Bettina

AU - Schroeder, Christopher

AU - Musante, Luciana

AU - Tzschach, Andreas

AU - Kalscheuer, Vera M.

AU - Meloni, Ilaria

AU - Raynaud, Martine

AU - Van Esch, Hilde

AU - Chelly, Jamel

AU - De Brouwer, Arjan P.M.

AU - Hackett, Anna

AU - Van Der Haar, Sigrun

AU - Henn, Wolfram

AU - Gecz, Jozef

AU - Riess, Olaf

AU - Bonin, Michael

AU - Reinhardt, Richard

AU - Ropers, Hans Hilger

AU - Kuss, Andreas W.

N1 - Funding Information: We thank Sven Poths for technical assistance. This study was supported by the Max Planck Innovation Fund. Additional funding was provided to HHR by the German Federal Ministry of Education and Research (MRNET 01GS08161-2).

PY - 2011/6

Y1 - 2011/6

N2 - X-linked intellectual disability (XLID), also known as X-linked mental retardation, is a highly genetically heterogeneous condition for which mutations in 90 different genes have been identified. In this study, we used a custom-made sequencing array based on the Affymetrix 50k platform for mutation screening in 17 known XLID genes in patients from 135 families and found eight single-nucleotide changes that were absent in controls. For four mutations affecting ATRX (p.1761MT), PQBP1 (p.155RX) and SLC6A8 (p.390PL and p.477SL), we provide evidence for a functional involvement of these changes in the aetiology of intellectual disability.

AB - X-linked intellectual disability (XLID), also known as X-linked mental retardation, is a highly genetically heterogeneous condition for which mutations in 90 different genes have been identified. In this study, we used a custom-made sequencing array based on the Affymetrix 50k platform for mutation screening in 17 known XLID genes in patients from 135 families and found eight single-nucleotide changes that were absent in controls. For four mutations affecting ATRX (p.1761MT), PQBP1 (p.155RX) and SLC6A8 (p.390PL and p.477SL), we provide evidence for a functional involvement of these changes in the aetiology of intellectual disability.

KW - X-linked intellectual disability

KW - X-linked mental retardation

KW - array-based resequencing

KW - automated PCR

KW - mutation analysis

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U2 - 10.1038/ejhg.2010.244

DO - 10.1038/ejhg.2010.244

M3 - Article

C2 - 21267006

AN - SCOPUS:79956308970

VL - 19

SP - 717

EP - 720

JO - European Journal of Human Genetics

JF - European Journal of Human Genetics

SN - 1018-4813

IS - 6

ER -

Hybridisation-based resequencing of 17 X-linked intellectual disability genes in 135 patients reveals novel mutations in ATRX, SLC6A8 and PQBP1

Abstract

Keywords

ASJC Scopus subject areas

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