The discovery of microdeletion syndromes in the post-genomic era: review of the methodology and characterization of a new 1q41q42 microdeletion ... View Full Text


Ontology type: schema:ScholarlyArticle      Open Access: True


Article Info

DATE

2007-09

AUTHORS

Lisa G. Shaffer, Aaron Theisen, Bassem A. Bejjani, Blake C. Ballif, Arthur S. Aylsworth, Cynthia Lim, Marie McDonald, Jay W. Ellison, Dana Kostiner, Sulagna Saitta, Tamim Shaikh

ABSTRACT

PURPOSE: The advent of molecular cytogenetic technologies has altered the means by which new microdeletion syndromes are identified. Whereas the cytogenetic basis of microdeletion syndromes has traditionally depended on the serendipitous ascertainment of a patient with established clinical features and a chromosomal rearrangement visible by G-banding, comparative genomic hybridization using microarrays has enabled the identification of novel, recurrent imbalances in patients with mental retardation and apparently nonspecific features. Compared with the "phenotype-first" approach of traditional cytogenetics, array-based comparative genomic hybridization has enabled the detection of novel genomic disorders using a "genotype-first" approach. We report as an illustrative example the characterization of a novel microdeletion syndrome of 1q41q42. METHODS: We tested more than 10,000 patients with developmental disabilities by array-based comparative genomic hybridization using our targeted microarray. High-resolution microarray analysis was performed using oligonucleotide microarrays for patients in whom deletions of 1q41q42 were identified. Fluorescence in situ hybridization was performed to confirm all 1q deletions in the patients and to exclude deletions or other chromosomal rearrangements in the parents. RESULTS: Seven cases were found with de novo deletions of 1q41q42. The smallest region of overlap is 1.17 Mb and encompasses five genes, including DISP1, a gene involved in the sonic hedgehog signaling pathway, the deletion of which has been implicated in holoprosencephaly in mice. Although none of these patients showed frank holoprosencephaly, many had other midline defects (cleft palate, diaphragmatic hernia), seizures, and mental retardation or developmental delay. Dysmorphic features are present in all patients at varying degrees. Some patients showed more severe phenotypes and carry the clinical diagnosis of Fryns syndrome. CONCLUSIONS: This new microdeletion syndrome with its variable clinical presentation may be responsible for a proportion of Fryns syndrome patients and adds to the increasing number of new syndromes identified with array-based comparative genomic hybridization. The genotype-first approach to identifying recurrent chromosome abnormalities is contrasted with the traditional phenotype-first approach. Targeting developmental pathways in a functional approach to diagnostics may lead to the identification of additional microdeletion syndromes. More... »

PAGES

607-616

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  • Identifiers

    URI

    http://scigraph.springernature.com/pub.10.1097/gim.0b013e3181484b49

    DOI

    http://dx.doi.org/10.1097/gim.0b013e3181484b49

    DIMENSIONS

    https://app.dimensions.ai/details/publication/pub.1016513285

    PUBMED

    https://www.ncbi.nlm.nih.gov/pubmed/17873649


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    86 schema:description PURPOSE: The advent of molecular cytogenetic technologies has altered the means by which new microdeletion syndromes are identified. Whereas the cytogenetic basis of microdeletion syndromes has traditionally depended on the serendipitous ascertainment of a patient with established clinical features and a chromosomal rearrangement visible by G-banding, comparative genomic hybridization using microarrays has enabled the identification of novel, recurrent imbalances in patients with mental retardation and apparently nonspecific features. Compared with the "phenotype-first" approach of traditional cytogenetics, array-based comparative genomic hybridization has enabled the detection of novel genomic disorders using a "genotype-first" approach. We report as an illustrative example the characterization of a novel microdeletion syndrome of 1q41q42. METHODS: We tested more than 10,000 patients with developmental disabilities by array-based comparative genomic hybridization using our targeted microarray. High-resolution microarray analysis was performed using oligonucleotide microarrays for patients in whom deletions of 1q41q42 were identified. Fluorescence in situ hybridization was performed to confirm all 1q deletions in the patients and to exclude deletions or other chromosomal rearrangements in the parents. RESULTS: Seven cases were found with de novo deletions of 1q41q42. The smallest region of overlap is 1.17 Mb and encompasses five genes, including DISP1, a gene involved in the sonic hedgehog signaling pathway, the deletion of which has been implicated in holoprosencephaly in mice. Although none of these patients showed frank holoprosencephaly, many had other midline defects (cleft palate, diaphragmatic hernia), seizures, and mental retardation or developmental delay. Dysmorphic features are present in all patients at varying degrees. Some patients showed more severe phenotypes and carry the clinical diagnosis of Fryns syndrome. CONCLUSIONS: This new microdeletion syndrome with its variable clinical presentation may be responsible for a proportion of Fryns syndrome patients and adds to the increasing number of new syndromes identified with array-based comparative genomic hybridization. The genotype-first approach to identifying recurrent chromosome abnormalities is contrasted with the traditional phenotype-first approach. Targeting developmental pathways in a functional approach to diagnostics may lead to the identification of additional microdeletion syndromes.
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    109 N023aeb5a594140d8b0f3929723a2c13f schema:name From the Health Research and Education Center, Washington State University, Spokane, Washington; Signature Genomic Laboratories, LLC, Spokane, Washington; Sacred Heart Medical Center, Spokane, Washington; Departments of Pediatrics and Genetics, University of North Carolina at Chapel Hill, North Carolina; Departments of Pediatrics, University of Arkansas Medical Sciences, Little Rock, Arkansas; Division of Medical Genetics, Duke University Medical Center, Durham, North Carolina; Department of Medical Genetics, Mayo Clinic, Rochester, Minnesota; Kaiser Permanente, Portland, Oregon; and the Department of Pediatrics, University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania. Current affiliation of Cynthia Lim: Phoenix Genetics Program, St. Joseph’s Hospital, Phoenix, Arizona., From the Health Research and Education Center, Washington State University, Spokane, Washington; Signature Genomic Laboratories, LLC, Spokane, Washington; Sacred Heart Medical Center, Spokane, Washington; Departments of Pediatrics and Genetics, University of North Carolina at Chapel Hill, North Carolina; Departments of Pediatrics, University of Arkansas Medical Sciences, Little Rock, Arkansas; Division of Medical Genetics, Duke University Medical Center, Durham, North Carolina; Department of Medical Genetics, Mayo Clinic, Rochester, Minnesota; Kaiser Permanente, Portland, Oregon; and the Department of Pediatrics, University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania. Current affiliation of Cynthia Lim: Phoenix Genetics Program, St. Joseph’s Hospital, Phoenix, Arizona., From the Health Research and Education Center, Washington State University, Spokane, Washington; Signature Genomic Laboratories, LLC, Spokane, Washington; Sacred Heart Medical Center, Spokane, Washington; Departments of Pediatrics and Genetics, University of North Carolina at Chapel Hill, North Carolina; Departments of Pediatrics, University of Arkansas Medical Sciences, Little Rock, Arkansas; Division of Medical Genetics, Duke University Medical Center, Durham, North Carolina; Department of Medical Genetics, Mayo Clinic, Rochester, Minnesota; Kaiser Permanente, Portland, Oregon; and the Department of Pediatrics, University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania. Current affiliation of Cynthia Lim: Phoenix Genetics Program, St. Joseph’s Hospital, Phoenix, Arizona.
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