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Cohen syndrome diagnosis using whole genome arrays

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Cohen syndrome diagnosis using whole genome arrays. / Rivera-Brugués, Nuria; Albrecht, Beate; Wieczorek, Dagmar; Schmidt, Heinrich; Keller, Thomas; Göhring, Ina; Ekici, Arif B; Tzschach, Andreas; Garshasbi, Masoud; Franke, Kathlen; Klopp, Norman; Wichmann, H-Erich; Meitinger, Thomas; Strom, Tim M; Hempel, Maja.

In: J MED GENET, Vol. 48, No. 2, 02.2011, p. 136-40.

Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

Harvard

Rivera-Brugués, N, Albrecht, B, Wieczorek, D, Schmidt, H, Keller, T, Göhring, I, Ekici, AB, Tzschach, A, Garshasbi, M, Franke, K, Klopp, N, Wichmann, H-E, Meitinger, T, Strom, TM & Hempel, M 2011, 'Cohen syndrome diagnosis using whole genome arrays', J MED GENET, vol. 48, no. 2, pp. 136-40. https://doi.org/10.1136/jmg.2010.082206

APA

Rivera-Brugués, N., Albrecht, B., Wieczorek, D., Schmidt, H., Keller, T., Göhring, I., Ekici, A. B., Tzschach, A., Garshasbi, M., Franke, K., Klopp, N., Wichmann, H-E., Meitinger, T., Strom, T. M., & Hempel, M. (2011). Cohen syndrome diagnosis using whole genome arrays. J MED GENET, 48(2), 136-40. https://doi.org/10.1136/jmg.2010.082206

Vancouver

Rivera-Brugués N, Albrecht B, Wieczorek D, Schmidt H, Keller T, Göhring I et al. Cohen syndrome diagnosis using whole genome arrays. J MED GENET. 2011 Feb;48(2):136-40. https://doi.org/10.1136/jmg.2010.082206

Bibtex

@article{63b4af03e0cb43c6ba603ce478caae45,
title = "Cohen syndrome diagnosis using whole genome arrays",
abstract = "BACKGROUND: Cohen syndrome is a rare autosomal recessive disorder with a complex phenotype including psychomotor retardation, microcephaly, obesity with slender extremities, joint laxity, progressive chorioretinal dystrophy/myopia, intermittent isolated neutropenia, a cheerful disposition, and characteristic facial features. The COH1 gene, which contains 62 exons, is so far the only gene known to be associated with Cohen syndrome. Point mutations, deletions and duplications have been described in this gene. Oligonucleotide arrays have reached a resolution which allows the detection of intragenic deletions and duplications, especially in large genes such as COH1.METHOD AND RESULTS: High density oligonucleotide array data from patients with unexplained mental retardation (n=1523) and normal controls (n=1612) were analysed for copy number variation (CNV) changes. Intragenic heterozygous deletions in the COH1 gene were detected in three patients but no such changes were detected in the controls. Subsequent sequencing of the COH1 gene revealed point mutations in the second allele in all three patients analysed.CONCLUSION: Genome-wide CNV screening with high density arrays provides a tool to detect intragenic deletions in the COH1 gene. This report presents an example of how microarrays can be used to identify autosomal recessive syndromes and to extend the phenotypic and mutational spectrum of recessive disorders.",
keywords = "Base Sequence, Child, Preschool, DNA Copy Number Variations, Developmental Disabilities, Female, Fingers, Genotype, Humans, Infant, Intellectual Disability, Male, Microcephaly, Molecular Sequence Data, Muscle Hypotonia, Myopia, Obesity, Oligonucleotide Array Sequence Analysis, Phenotype, Sequence Analysis, DNA, Vesicular Transport Proteins",
author = "Nuria Rivera-Brugu{\'e}s and Beate Albrecht and Dagmar Wieczorek and Heinrich Schmidt and Thomas Keller and Ina G{\"o}hring and Ekici, {Arif B} and Andreas Tzschach and Masoud Garshasbi and Kathlen Franke and Norman Klopp and H-Erich Wichmann and Thomas Meitinger and Strom, {Tim M} and Maja Hempel",
year = "2011",
month = feb,
doi = "10.1136/jmg.2010.082206",
language = "English",
volume = "48",
pages = "136--40",
journal = "J MED GENET",
issn = "0022-2593",
publisher = "BMJ PUBLISHING GROUP",
number = "2",

}

RIS

TY - JOUR

T1 - Cohen syndrome diagnosis using whole genome arrays

AU - Rivera-Brugués, Nuria

AU - Albrecht, Beate

AU - Wieczorek, Dagmar

AU - Schmidt, Heinrich

AU - Keller, Thomas

AU - Göhring, Ina

AU - Ekici, Arif B

AU - Tzschach, Andreas

AU - Garshasbi, Masoud

AU - Franke, Kathlen

AU - Klopp, Norman

AU - Wichmann, H-Erich

AU - Meitinger, Thomas

AU - Strom, Tim M

AU - Hempel, Maja

PY - 2011/2

Y1 - 2011/2

N2 - BACKGROUND: Cohen syndrome is a rare autosomal recessive disorder with a complex phenotype including psychomotor retardation, microcephaly, obesity with slender extremities, joint laxity, progressive chorioretinal dystrophy/myopia, intermittent isolated neutropenia, a cheerful disposition, and characteristic facial features. The COH1 gene, which contains 62 exons, is so far the only gene known to be associated with Cohen syndrome. Point mutations, deletions and duplications have been described in this gene. Oligonucleotide arrays have reached a resolution which allows the detection of intragenic deletions and duplications, especially in large genes such as COH1.METHOD AND RESULTS: High density oligonucleotide array data from patients with unexplained mental retardation (n=1523) and normal controls (n=1612) were analysed for copy number variation (CNV) changes. Intragenic heterozygous deletions in the COH1 gene were detected in three patients but no such changes were detected in the controls. Subsequent sequencing of the COH1 gene revealed point mutations in the second allele in all three patients analysed.CONCLUSION: Genome-wide CNV screening with high density arrays provides a tool to detect intragenic deletions in the COH1 gene. This report presents an example of how microarrays can be used to identify autosomal recessive syndromes and to extend the phenotypic and mutational spectrum of recessive disorders.

AB - BACKGROUND: Cohen syndrome is a rare autosomal recessive disorder with a complex phenotype including psychomotor retardation, microcephaly, obesity with slender extremities, joint laxity, progressive chorioretinal dystrophy/myopia, intermittent isolated neutropenia, a cheerful disposition, and characteristic facial features. The COH1 gene, which contains 62 exons, is so far the only gene known to be associated with Cohen syndrome. Point mutations, deletions and duplications have been described in this gene. Oligonucleotide arrays have reached a resolution which allows the detection of intragenic deletions and duplications, especially in large genes such as COH1.METHOD AND RESULTS: High density oligonucleotide array data from patients with unexplained mental retardation (n=1523) and normal controls (n=1612) were analysed for copy number variation (CNV) changes. Intragenic heterozygous deletions in the COH1 gene were detected in three patients but no such changes were detected in the controls. Subsequent sequencing of the COH1 gene revealed point mutations in the second allele in all three patients analysed.CONCLUSION: Genome-wide CNV screening with high density arrays provides a tool to detect intragenic deletions in the COH1 gene. This report presents an example of how microarrays can be used to identify autosomal recessive syndromes and to extend the phenotypic and mutational spectrum of recessive disorders.

KW - Base Sequence

KW - Child, Preschool

KW - DNA Copy Number Variations

KW - Developmental Disabilities

KW - Female

KW - Fingers

KW - Genotype

KW - Humans

KW - Infant

KW - Intellectual Disability

KW - Male

KW - Microcephaly

KW - Molecular Sequence Data

KW - Muscle Hypotonia

KW - Myopia

KW - Obesity

KW - Oligonucleotide Array Sequence Analysis

KW - Phenotype

KW - Sequence Analysis, DNA

KW - Vesicular Transport Proteins

U2 - 10.1136/jmg.2010.082206

DO - 10.1136/jmg.2010.082206

M3 - SCORING: Journal article

C2 - 20921020

VL - 48

SP - 136

EP - 140

JO - J MED GENET

JF - J MED GENET

SN - 0022-2593

IS - 2

ER -