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Delineation of Cohen Syndrome Following a Large-Scale Genotype-Phenotype Screen

Cohen syndrome is an autosomal recessive condition associated with developmental delay, facial dysmorphism, pigmentary retinopathy, and neutropenia. The pleiotropic phenotype, combined with insufficient clinical data, often leads to an erroneous diagnosis and has led to confusion in the literature.... Full description

Journal Title: American journal of human genetics 2004, Vol.75 (1), p.122-127
Main Author: Kolehmainen, Juha
Other Authors: Wilkinson, Robert , Lehesjoki, Anna-Elina , Chandler, Kate , Kivitie-Kallio, Satu , Clayton-Smith, Jill , Träskelin, Ann-Liz , Waris, Laura , Saarinen, Anne , Khan, Jabbar , Gross-Tsur, Varda , Traboulsi, Elias I , Warburg, Mette , Fryns, Jean-Pierre , Norio, Reijo , C. M. Black, Graeme , D. C. Manson, Forbes
Format: Electronic Article Electronic Article
Language: English
Subjects:
Quelle: Alma/SFX Local Collection
Publisher: Chicago, IL: Elsevier Inc
ID: ISSN: 0002-9297
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title: Delineation of Cohen Syndrome Following a Large-Scale Genotype-Phenotype Screen
format: Article
creator:
  • Kolehmainen, Juha
  • Wilkinson, Robert
  • Lehesjoki, Anna-Elina
  • Chandler, Kate
  • Kivitie-Kallio, Satu
  • Clayton-Smith, Jill
  • Träskelin, Ann-Liz
  • Waris, Laura
  • Saarinen, Anne
  • Khan, Jabbar
  • Gross-Tsur, Varda
  • Traboulsi, Elias I
  • Warburg, Mette
  • Fryns, Jean-Pierre
  • Norio, Reijo
  • C. M. Black, Graeme
  • D. C. Manson, Forbes
subjects:
  • Abnormalities, Multiple - diagnosis
  • Abnormalities, Multiple - genetics
  • Biological and medical sciences
  • Child
  • Cohort Studies
  • Craniofacial Abnormalities - genetics
  • Craniofacial Abnormalities - pathology
  • Developmental Disabilities - genetics
  • Developmental Disabilities - pathology
  • Family
  • Female
  • General aspects. Genetic counseling
  • Genetics
  • Genetics(clinical)
  • Genotype
  • Human genetics
  • humanities
  • Humans
  • Intellectual Disability - genetics
  • Intellectual Disability - pathology
  • Male
  • Mass Screening
  • Medical genetics
  • Medical sciences
  • Membrane Proteins - genetics
  • Microcephaly - genetics
  • Microcephaly - pathology
  • Mutation - genetics
  • Phenotype
  • Polymerase Chain Reaction
  • Polymorphism, Single-Stranded Conformational
  • Report
  • Syndrome
  • Vesicular Transport Proteins
ispartof: American journal of human genetics, 2004, Vol.75 (1), p.122-127
description: Cohen syndrome is an autosomal recessive condition associated with developmental delay, facial dysmorphism, pigmentary retinopathy, and neutropenia. The pleiotropic phenotype, combined with insufficient clinical data, often leads to an erroneous diagnosis and has led to confusion in the literature. Here, we report the results of a comprehensive genotype-phenotype study on the largest cohort of patients with Cohen syndrome assembled to date. We found 22 different COH1 mutations, of which 19 are novel, in probands identified by our diagnostic criteria. In addition, we identified another three novel mutations in patients with incomplete clinical data. By contrast, no COH1 mutations were found in patients with a provisional diagnosis of Cohen syndrome who did not fulfill the diagnostic criteria (“Cohen-like” syndrome). This study provides a molecular confirmation of the clinical phenotype associated with Cohen syndrome and provides a basis for laboratory screening that will be valuable in its diagnosis.
language: eng
source: Alma/SFX Local Collection
identifier: ISSN: 0002-9297
fulltext: fulltext
issn:
  • 0002-9297
  • 1537-6605
url: Link


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titleDelineation of Cohen Syndrome Following a Large-Scale Genotype-Phenotype Screen
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descriptionCohen syndrome is an autosomal recessive condition associated with developmental delay, facial dysmorphism, pigmentary retinopathy, and neutropenia. The pleiotropic phenotype, combined with insufficient clinical data, often leads to an erroneous diagnosis and has led to confusion in the literature. Here, we report the results of a comprehensive genotype-phenotype study on the largest cohort of patients with Cohen syndrome assembled to date. We found 22 different COH1 mutations, of which 19 are novel, in probands identified by our diagnostic criteria. In addition, we identified another three novel mutations in patients with incomplete clinical data. By contrast, no COH1 mutations were found in patients with a provisional diagnosis of Cohen syndrome who did not fulfill the diagnostic criteria (“Cohen-like” syndrome). This study provides a molecular confirmation of the clinical phenotype associated with Cohen syndrome and provides a basis for laboratory screening that will be valuable in its diagnosis.
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subjectAbnormalities, Multiple - diagnosis ; Abnormalities, Multiple - genetics ; Biological and medical sciences ; Child ; Cohort Studies ; Craniofacial Abnormalities - genetics ; Craniofacial Abnormalities - pathology ; Developmental Disabilities - genetics ; Developmental Disabilities - pathology ; Family ; Female ; General aspects. Genetic counseling ; Genetics ; Genetics(clinical) ; Genotype ; Human genetics ; humanities ; Humans ; Intellectual Disability - genetics ; Intellectual Disability - pathology ; Male ; Mass Screening ; Medical genetics ; Medical sciences ; Membrane Proteins - genetics ; Microcephaly - genetics ; Microcephaly - pathology ; Mutation - genetics ; Phenotype ; Polymerase Chain Reaction ; Polymorphism, Single-Stranded Conformational ; Report ; Syndrome ; Vesicular Transport Proteins
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11Traboulsi, Elias I
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13Fryns, Jean-Pierre
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descriptionCohen syndrome is an autosomal recessive condition associated with developmental delay, facial dysmorphism, pigmentary retinopathy, and neutropenia. The pleiotropic phenotype, combined with insufficient clinical data, often leads to an erroneous diagnosis and has led to confusion in the literature. Here, we report the results of a comprehensive genotype-phenotype study on the largest cohort of patients with Cohen syndrome assembled to date. We found 22 different COH1 mutations, of which 19 are novel, in probands identified by our diagnostic criteria. In addition, we identified another three novel mutations in patients with incomplete clinical data. By contrast, no COH1 mutations were found in patients with a provisional diagnosis of Cohen syndrome who did not fulfill the diagnostic criteria (“Cohen-like” syndrome). This study provides a molecular confirmation of the clinical phenotype associated with Cohen syndrome and provides a basis for laboratory screening that will be valuable in its diagnosis.
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1Abnormalities, Multiple - genetics
2Biological and medical sciences
3Child
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5Craniofacial Abnormalities - genetics
6Craniofacial Abnormalities - pathology
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8Developmental Disabilities - pathology
9Family
10Female
11General aspects. Genetic counseling
12Genetics
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14Genotype
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18Intellectual Disability - genetics
19Intellectual Disability - pathology
20Male
21Mass Screening
22Medical genetics
23Medical sciences
24Membrane Proteins - genetics
25Microcephaly - genetics
26Microcephaly - pathology
27Mutation - genetics
28Phenotype
29Polymerase Chain Reaction
30Polymorphism, Single-Stranded Conformational
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32Syndrome
33Vesicular Transport Proteins
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titleDelineation of Cohen Syndrome Following a Large-Scale Genotype-Phenotype Screen
authorKolehmainen, Juha ; Wilkinson, Robert ; Lehesjoki, Anna-Elina ; Chandler, Kate ; Kivitie-Kallio, Satu ; Clayton-Smith, Jill ; Träskelin, Ann-Liz ; Waris, Laura ; Saarinen, Anne ; Khan, Jabbar ; Gross-Tsur, Varda ; Traboulsi, Elias I ; Warburg, Mette ; Fryns, Jean-Pierre ; Norio, Reijo ; C. M. Black, Graeme ; D. C. Manson, Forbes
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jtitleAmerican journal of human genetics
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notesThe first two authors contributed equally to this report.
abstractCohen syndrome is an autosomal recessive condition associated with developmental delay, facial dysmorphism, pigmentary retinopathy, and neutropenia. The pleiotropic phenotype, combined with insufficient clinical data, often leads to an erroneous diagnosis and has led to confusion in the literature. Here, we report the results of a comprehensive genotype-phenotype study on the largest cohort of patients with Cohen syndrome assembled to date. We found 22 different COH1 mutations, of which 19 are novel, in probands identified by our diagnostic criteria. In addition, we identified another three novel mutations in patients with incomplete clinical data. By contrast, no COH1 mutations were found in patients with a provisional diagnosis of Cohen syndrome who did not fulfill the diagnostic criteria (“Cohen-like” syndrome). This study provides a molecular confirmation of the clinical phenotype associated with Cohen syndrome and provides a basis for laboratory screening that will be valuable in its diagnosis.
copChicago, IL
pubElsevier Inc
pmid15141358
doi10.1086/422197
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