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. Author manuscript; available in PMC: 2016 Aug 1.
Published in final edited form as: Fertil Steril. 2015 May 5;104(2):286–291. doi: 10.1016/j.fertnstert.2015.04.001

Figure 1.

Figure 1

NPAS2 gene, pedigree of the family, and segregation study A. NPAS2 gene is located in chromosome 2 and consists of 21 exons. The specific mutation that the WES identified is in 14th exon with a C to a G leading to a nonsynonmous mutation. B. Pedigree of the family. Black filled boxes indicate affected individuals. C. Sanger chromatographs of the entire family for segregation analyses. Affected individuals have homozygous mutation whereas unaffected individuals are heterozygous or wild type, which is consistent with Mendelian recessive expectations