Molecular diagnosis of Kallmann syndrome with diabetes by whole exome sequencing and bioinformatic approaches

Figure 1 Intersection analysis of Kallmann syndrome and normosmic hypogonadotropic hypogonadism pathogenic genes. nIHH: Normosmic hypogonadotropic hypogonadism; KS: Kallmann syndrome.

Figure 2 Kallmann syndrome pathogenic gene enrichment pathway and gene ontology, the x-axis represents gene ratio, and the y-axis represents gene ontology term; the size of the dot represents the number of genes, and the color of the dot represents the level of P value.

Figure 3 Normosmic hypogonadotropic hypogonadism pathogenic gene enrichment pathway and gene ontology, the x-axis represents gene ratio, and the y-axis represents gene ontology term; the size of the dot represents the number of genes, and the color of the dot represents the level of P value.

Figure 4 Normosmic hypogonadotropic hypogonadism interacts with Kallmann syndrome pathogenic gene proteins.

Figure 5 Original results of exome sequencing. A and B: The sequence quality distribution map of reads 1 and 2 of patient 1; C and D: The sequence quality distribution map of reads 1 and 2 of patient 2; E and F is the sequence quality distribution map of reads 1 and 2 of patient 3; G and H is the sequence quality distribution map of reads 1 and 2 of patient 4.

Figure 6 The location of four mutation sites.

Figure 7 Sanger sequencing of 4 Kallmann syndrome family results.