Table V.

Summary of mutations identified in women with premature ovarian failure (POF) in the GDF9 and BMP15 genes.

Gene and sequence change	Amino Acid Change	Initial study population	No. POF mutations	References	No. of Carriers
					MODZT	Controls
GDF9
c.-8C>T	—	Indian	2/195	Dixit et al. (2005)	—	1
c.199A>C	Lys67Glu	Indian	5/195	Dixit et al. (2005)	—	1
c.205C>T	Ser70Ser	Indian	1/195	Dixit et al. (2005)	1	—
c.307C>T	Pro103Ser	Caucasian	1/61	Kovanci et al. (2007)	30*	13*
c.646G>A	Val216Met	Indian	2/195	Dixit et al. (2005)	—	—
c.1353C>T	Cys461Cys	Indian	3/195	Dixit et al. (2005)	—	—
BMP15
c.181C>T	Arg61Trp	Indian	2/202	Dixit et al. (2006)	—	—
c.182G>A	Arg61Glu	Indian	1/202	Dixit et al. (2006)	—	—
c.202C>T	Arg68Trp	Italian	1/166	Di Pasquale et al. (2006)	2	3
c.226C>T	Arg76Cys	Indian	5/202	Dixit et al. (2006)	—	—
c.227G>A	Arg76His	Indian	1/202	Dixit et al. (2006)	—	—
c.381A>G	Leu127Leu	Indian	1/202	Dixit et al. (2006)	—	—
c.443T>C	Leu148Pro	Mixed origins	1/203	Laissue et al. (2006)	—	—
		African-American	2/14	Di Pasquale et al. (2006)
c.468G>A	Val156Val	Mixed origins	1/203	Laissue et al. (2006)	—	—
c.538G>A	Ala180Thr	Italian	5/166	Di Pasquale et al. (2006)	46	32
		Indian	3/202	Dixit et al. (2006)
		Mixed origins	2/203	Laissue et al. (2006)
c.538G>T(+)c.539C>T	Ala180Phe/Ser+Val	Indian	1/202	Dixit et al. (2006)	—	—
c.588T>A	Asn196Lys	Indian	1/202	Dixit et al. (2006)	—	—
c.617G>A	Arg206His	Indian	1/202	Dixit et al. (2006)	—	—
c.631C>T	Glu211X	Indian	1/202	Dixit et al. (2006)	—	—
c.661T>C	Trp221Arg	Indian	1/202	Dixit et al. (2006)	—	—
c.727A>G	Ile243Gly	Indian	1/202	Dixit et al. (2006)	—	—
c.788_789insTCT	Leu263_Arg264insLeu	Indian	9/202	Dixit et al. (2006)	16	12
c.831T>C	Thr277Thr	Mixed origins	1/203	Laissue et al. (2006)	—	—

SNPs were screened in 933 DZ twinning families (including 1693 MODZT) and 1512 controls.

*Found previously in this cohort, Palmer et al. (2006).