Novel variants in growth differentiation factor 9 in mothers of dizygotic twins.

Novel variants in growth differentiation factor 9 in mothers of dizygotic twins. Research Abstract Details 

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Novel variants in growth differentiation factor 9 in mothers of dizygotic twins. Abstract Text:

James S Palmer,Zhen Zhen Zhao,Chantal Hoekstra,Nicholas K Hayward,Penelope M Webb,David C Whiteman,Nicholas G Martin,Dorret I Boomsma,David L Duffy,Grant W Montgomery,

CONTEXT: Genes from the ovarian bone morphogenetic signaling pathway (GDF9 and BMP15) are critical for normal human fertility. We previously identified a deletion mutation in GDF9 in sisters with spontaneous dizygotic (DZ) twins, but the prevalence of rare GDF9 variants in twinning families is unknown. OBJECTIVE: The objective was to evaluate the frequency of rare variants in GDF9 in families with a history of DZ twinning. DESIGN AND SUBJECTS: We recruited 3450 individuals from 915 DZ twinning families (1693 mothers of twins) and 1512 controls of Caucasian origin. One mother of DZ twins was selected from 279 of the 915 families, and a DNA sample was screened for rare variants in GDF9 using denaturant HPLC. Variants were confirmed by DNA sequencing and genotyped in the entire sample by matrix-assisted laser desorption ionization time of flight (MALDI-TOF) mass spectrometry. RESULTS: We found two novel insertion/deletions (c.392-393insT, c.1268-1269delAA) and four missense alterations in the GDF9 sequence in mothers of twins. Two of the missense variants (c.307C > T, p.Pro103Ser and c.362C > T, p.Thr121Leu) were located in the pro-region of GDF9 and two (c.1121C > T, p.Pro374Leu and c.1360C > T, p.Arg454Cys) in the mature protein region. For each variant, the frequencies were higher in cases compared with controls. The proportion of mothers of DZ twins carrying any variant (4.12%) was significantly higher (P < 0.0001) than the proportion of carriers in controls (2.29%). CONCLUSION: We describe new variants in the GDF9 gene that are significantly more common in mothers of DZ twins than controls, suggesting that rare GDF9 variants contribute to the likelihood of DZ twinning.

Novel variants in growth differentiation factor 9 in mothers of dizygotic twins. Publishing Authors By Initials

JS Palmer,ZZ Zhao,C Hoekstra,NK Hayward,PM Webb,DC Whiteman,NG Martin,DI Boomsma,DL Duffy,GW Montgomery,

For similar genetic phenomena: variation (genetics) research abstracts see: genetic phenomena: variation (genetics) research

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MEDLINE DATE:

Novel variants in growth differentiation factor 9 in mothers of dizygotic twins. Journal Published:

PUBLICATION TYPE: Research Support, Non-U.S. Gov

Journal: The Journal of clinical endocrinology and metaboli

VOLUME: 91

Page Numbers: 4713-6

Journal Abbreviation: J. Clin. Endocrinol. Metab.

ISSN: 0021-972X

DAY: 5

MONTH: 09

YEAR: 2006

Novel variants in growth differentiation factor 9 in mothers of dizygotic twins. Information

Number of References:

LANGUAGE: eng

NlmUniqueID: 375362

Novel variants in growth differentiation factor 9 in mothers of dizygotic twins. Keywords Mesh Terms:

KEYWORDS: Variation (Genetics)

MESH TERMS: genetics

Chemical & Substance for Abstract: Novel variants in growth differentiation factor 9 in mothers of dizygotic twins. Information

Substance Name: growth differentiation factor 9

Registry Number: 0

Grant and Affiliation Information for Novel variants in growth differentiation factor 9 in mothers of dizygotic twins.

AFFILIATION: Molecular Epidemiology, Queensland Institute of Medical Research, Brisbane, QLD 4029, Australia.

Country: United States

AGENCY: United States NICHD

GRANT: HD042157

ACRONYM: HD

MEDLINETA: J Clin Endocrinol Metab

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