Abstract
To the Editor: Weinberg-Shukron et al. (Sept. 13 issue)1 report the discovery of biallelic BRCA2 truncating mutations in patients with ovarian dysgenesis. Through exome sequencing, we have recently identified additional compound heterozygous BRCA2 mutations in Chinese patients with premature ovarian insufficiency: c.68-1G→C plus c.4440T→G(p.Y1480X) in two affected sisters and c.8168A→T(p.D2723V) plus c.9697_9700del(p.C3233Wfs*15) in a woman whose immediate family members were unaffected. (Variations were aligned to NM_000059, human genome reference hg19, and submitted to dbSNP.) These findings provide further evidence of a critical role of BRCA2 in ovarian function. All patients presented with primary amenorrhea. Neither hematologic abnormalities nor solid tumors .
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