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

doi:10.4239/wjd.v12.i12.2058

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World Journal of Diabetes

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Baishideng Publishing Group Inc, 7041 Koll Center Parkway, Suite 160, Pleasanton, CA 94566, USA

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World J Diabetes. Dec 15, 2021; 12(12): 2058-2072
Published online Dec 15, 2021. doi: 10.4239/wjd.v12.i12.2058

Table 3 List of gene related to Kallmann syndrome and normosmic hypogonadotropic hypogonadism

Disease	Gene (Phenotype MIM number)	Count
Kallmann syndrome and normosmic hypogonadotropic hypogonadism	FGFR1(147950), FGF8 (612702), PROK2 (610628), CHD7 (612370), WDR11 (614858)	5
Normosmic hypogonadotropic hypogonadism	LEP (614962), LEPR (614963), NR0B1 (300200), SRA1, GNRHR (146110), GNRH1 (614841),KISS1R (614837), KISS1 (614842), TACR3 (614840), TAC3 (614839), NR5A1, HESX-1, LHX3, SOX2, FSHB (229070), LHB (228300), PC1, PNPLA6 (215470), RNF216, OTUD4, STUB1, POLR3A (607694), POLR3B (614381), RAB3GAP1, RAB3GAP2, RAB18, TBCID20, DMXL2, KISS1R(614837), NDNF (618841)	30
Kallmann syndrome	ANOS1 (308700), FGF17 (615270), IL17RD (615267), DUSP6 (615269), SPRY4 (615266), FLRT3 (615271),, KLB, PROKR2 (244200), SEMA3A (614897), SEMA3E, SOX10, HS6ST1 (614880), CCDC141, FEZF1 (616030), IGSF10, SMCHD1, NELF (614838), SOX3	18

Citation: Sun SS, Wang RX. Molecular diagnosis of Kallmann syndrome with diabetes by whole exome sequencing and bioinformatic approaches. World J Diabetes 2021; 12(12): 2058-2072
URL: https://www.wjgnet.com/1948-9358/full/v12/i12/2058.htm
DOI: https://dx.doi.org/10.4239/wjd.v12.i12.2058