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The Gly67Glu mutation segregates with cancer predisposition across the pedigree.
On the other hand, for the GRN g.10974_10975insCC insertion, we confirmed that this novel mutation segregates with disease status.
The mutation segregates with the disease in this family: the same mutation was detected in patients II-1 and II-2 with identical phenotype, and the parents (I-1 and I-2,) were carriers of the mutation.
Through this analysis we identified both a familial form of PDB, in which the M404V mutation segregates with a polyostotic phenotype of the disorder, and several asymptomatic gene carriers.
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While this manuscript was under revision there was a report describing a family where a GATA4 missense mutation segregated with congenital heart disease and 46,XY DSD[58].
The EPOR G1251T mutation segregated with the polycythemic status, as demonstrated by the EPOR analysis of other family members (Figure 1B).
To identify possible mutations in the EDA gene, we first sequenced all eight exons coding for EDA in two affected males and two female carriers in Family A. We found a novel missense mutation c.947A>G in exon 9 of EDA, and found the mutation segregating with affected or carrier status in the other family members (Fig. 5).
The mutation segregated with the disease phenotype of LMX1B nephropathy.
No amino acid changing mutation segregating with the disease was identified.
Further testing found that the mutation segregated with breast cancer in these families.
The mutation segregated with phenotype in the three families in whom unaffected members were available.
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