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| PMID |
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| TITLE |
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| Discordant MZ twins with cleft lip and palate: a model for identifying genes in complex traits. |
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| ABSTRACT |
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| Monozygotic (MZ) twins may be discordant for complex traits due to differential environmental exposure in utero, epigenetic variability in imprinting, X chromosome inactivation, or stochastic effects. Occasionally MZ twins may be discordant for chromosomal and single gene disorders due to somatic mosaicism. For complex traits, which are due to the interactive effects of multiple genes and environmental factors, the affected twin of a discordant MZ pair offers the possibility for identifying somatic mutations in candidate genes. DNA sequencing of candidate genes in discordant MZ twins can identify those rare etiologic mutational events responsible for the different phenotypes since the confounding effects of common single nucleotide polymorphisms are eliminated, as DNA sequences should be identical in MZ pairs. In this report we describe the extensive DNA sequencing of 18 candidate genes in a sample of MZ and dizygotic (DZ) twins with nonsyndromic cleft lip with or without cleft palate. We were unable to identify any somatic differences in approximately 34 Kb of DNA sequenced in 13 MZ pairs, for a total of approximately 900 Kb of sequence comparisons, supporting the hypothesis that nonetiologic posttwinning mutations are rare. While no etiologic variants were identified in this study, sequence comparisons of discordant MZ twins can serve as a tool for identifying etiologic mutations in clefting and other complex traits. |
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| DATE PUBLISHED |
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| HISTORY |
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| PUBSTATUS |
PUBSTATUSDATE |
| pubmed |
2005/04/20 09:00 |
| medline |
2005/12/24 09:00 |
| entrez |
2005/04/20 09:00 |
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| AUTHORS |
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| NAME |
COLLECTIVENAME |
LASTNAME |
FORENAME |
INITIALS |
AFFILIATION |
AFFILIATIONINFO |
| Mansilla MA |
|
Mansilla |
Maria Adela |
MA |
|
Department of Pediatrics, University of Iowa, Iowa City, Iowa 52242, USA. |
| Kimani J |
|
Kimani |
Jane |
J |
|
|
| Mitchell LE |
|
Mitchell |
Laura E |
LE |
|
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| Christensen K |
|
Christensen |
Kaare |
K |
|
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| Boomsma DI |
|
Boomsma |
Dorret I |
DI |
|
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| Daack-Hirsch S |
|
Daack-Hirsch |
Sandy |
S |
|
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| Nepomucena B |
|
Nepomucena |
Buena |
B |
|
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| Wyszynski DF |
|
Wyszynski |
Diego F |
DF |
|
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| Felix TM |
|
Felix |
Temis M |
TM |
|
|
| Martin NG |
|
Martin |
Nicholas G |
NG |
|
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| Murray JC |
|
Murray |
Jeffrey C |
JC |
|
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| INVESTIGATORS |
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| JOURNAL |
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| VOLUME: 8 |
| ISSUE: 1 |
| TITLE: Twin research and human genetics : the official journal of the International Society for Twin Studies |
| ISOABBREVIATION: Twin Res Hum Genet |
| YEAR: 2005 |
| MONTH: Feb |
| DAY: |
| MEDLINEDATE: |
| SEASON: |
| CITEDMEDIUM: Print |
| ISSN: 1832-4274 |
| ISSNTYPE: Print |
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| MEDLINE JOURNAL |
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| MEDLINETA: Twin Res Hum Genet |
| COUNTRY: England |
| ISSNLINKING: 1832-4274 |
| NLMUNIQUEID: 101244624 |
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| PUBLICATION TYPE |
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| PUBLICATIONTYPE TEXT |
| Journal Article |
| Research Support, N.I.H., Extramural |
| Research Support, U.S. Gov't, P.H.S. |
| Twin Study |
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| COMMENTS AND CORRECTIONS |
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| GRANTS |
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| GRANTID |
AGENCY |
COUNTRY |
| DE08559 |
NIDCR NIH HHS |
United States |
| DE10293 |
NIDCR NIH HHS |
United States |
| DE15197 |
NIDCR NIH HHS |
United States |
| ES10876 |
NIEHS NIH HHS |
United States |
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| GENERAL NOTE |
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| KEYWORDS |
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| MESH HEADINGS |
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| DESCRIPTORNAME |
QUALIFIERNAME |
| Cleft Lip |
genetics |
| Cleft Palate |
genetics |
| Humans |
genetics |
| Models, Genetic |
genetics |
| Twins, Monozygotic |
genetics |
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| SUPPLEMENTARY MESH |
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| GENE SYMBOLS |
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| CHEMICALS |
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| OTHER ID's |
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