A TAC3 Missense Variant in a Domestic Shorthair Cat with Testicular Hypoplasia and Persistent Primary Dentition
Abstract
:1. Introduction
2. Materials and Methods
2.1. Ethics Statement
2.2. Animal Selection
2.3. Hormone Measurement
2.4. DNA Extraction
2.5. Whole Genome Sequencing
2.6. Variant Calling
2.7. Gene Analysis
2.8. Sanger Sequencing
3. Results
3.1. Clinical Examination
3.2. Laboratory Findings
3.3. Genetic Analysis
4. Discussion
5. Conclusions
Supplementary Materials
Author Contributions
Funding
Acknowledgments
Conflicts of Interest
References
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Gene | Phenotype | Inheritance | Ref. |
---|---|---|---|
CHD7 | Hypogonadotropic hypogonadism 5 with or without anosmia | AD | [5] |
DAX1 | Adrenal hypoplasia, congenital | XLR | [6] |
DUSP6 | Hypogonadotropic hypogonadism 19 with or without anosmia | AD | [7] |
FEZF1 | Hypogonadotropic hypogonadism 22 with or without anosmia | AR | [8] |
FGF8 | Hypogonadotropic hypogonadism 6 with or without anosmia | AD | [9] |
FGF17 | Hypogonadotropic hypogonadism 20 with or without anosmia | AD | [7] |
FGFR1 | Hypogonadotropic hypogonadism 2 with or without anosmia | AD | [10] |
FLRT3 | Hypogonadotropic hypogonadism 21 with anosmia | AD | [7] |
FSHB | Hypogonadotropic hypogonadism 24 without anosmia | AR | [11] |
GNRH1 | Hypogonadotropic hypogonadism 12 with or without anosmia | AR | [12] |
GNRHR | Hypogonadotropic hypogonadism 7 without anosmia | AR | [13] |
HESX-1 | Growth hormone deficiency with pituitary anomalies | AR, AD | [14] |
HS6ST1 | Hypogonadotropic hypogonadism 15 with or without anosmia | AD | [7] |
IL17RD | Hypogonadotropic hypogonadism 18 with or without anosmia | AR, AD | [7] |
KAL1 | Hypogonadotropic hypogonadism 1 with or without anosmia | XLR | [15] |
KISS1 | Hypogonadotropic hypogonadism 13 with or without anosmia | AR | [16] |
KISS1R | Hypogonadotropic hypogonadism 8 with or without anosmia | AR | [17] |
LEP | Obesity, morbid, due to leptin deficiency | AR | [18] |
LEPR | Obesity, morbid, due to leptin deficiency | AR | [18] |
LHB | Hypogonadotropic hypogonadism 23 with or without anosmia | AR | [19] |
LHX3 | Pituitary hormone deficiency, combined, 3 | AR | [20] |
NELF | Hypogonadotropic hypogonadism 9 with or without anosmia | AD | [21] |
OTUD4 | Gordon Holmes syndrome | AR | [22] |
PNPLA6 | Boucher–Neuhauser Syndrome | AR | [23] |
POLR3B | hypogonadotropic hypogonadism | AR | [24] |
PROK2 | Hypogonadotropic hypogonadism 4 with or without anosmia | AD | [25] |
PROKR2 | Hypogonadotropic hypogonadism 3 with or without anosmia | AD | [25] |
PROP-1 | Pituitary hormone deficiency, combined, 2 | AR | [26] |
RAB18 | Warburg micro syndrome 3 | AR | [27] |
RAB3GAP1 | Warburg micro syndrome 1 | AR | [27] |
RAB3GAP2 | Warburg micro syndrome 2 | AR | [27] |
RNF216 | Cerebellar ataxia and hypogonadotropic hypogonadism | AR | [28] |
SEMA3A | Hypogonadotropic hypogonadism 16 with or without anosmia | AD | [29] |
SOX2 | Abnormalities of the central nervous system | AD | [30] |
SPRY4 | Hypogonadotropic hypogonadism 17 with or without anosmia | AD | [7] |
STUB1 | Spinocerebellar ataxia, autosomal recessive 16 | AR | [31] |
TAC3 | Hypogonadotropic hypogonadism 10 with or without anosmia | AR | [32] |
TACR3 | Hypogonadotropic hypogonadism 11 with or without anosmia | AR | [32] |
TBC1D20 | Warburg micro syndrome 4 | AR | [33] |
WDR11 | Hypogonadotropic hypogonadism 14 with or without anosmia | AD | [34] |
Filtering Step | Homozygous Variants | Heterozygous Variant |
---|---|---|
Private variants | 25,355 | 209,967 |
Protein-changing private variants | 111 | 756 |
Private variants in known candidate genes | 1 | 0 |
Cats | G/G | G/A | A/A |
---|---|---|---|
Cases (n = 1) | 0 | 0 | 1 |
Control cats (n = 171) | 169 | 2 | 0 |
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Hug, P.; Kern, P.; Jagannathan, V.; Leeb, T. A TAC3 Missense Variant in a Domestic Shorthair Cat with Testicular Hypoplasia and Persistent Primary Dentition. Genes 2019, 10, 806. https://doi.org/10.3390/genes10100806
Hug P, Kern P, Jagannathan V, Leeb T. A TAC3 Missense Variant in a Domestic Shorthair Cat with Testicular Hypoplasia and Persistent Primary Dentition. Genes. 2019; 10(10):806. https://doi.org/10.3390/genes10100806
Chicago/Turabian StyleHug, Petra, Patricia Kern, Vidhya Jagannathan, and Tosso Leeb. 2019. "A TAC3 Missense Variant in a Domestic Shorthair Cat with Testicular Hypoplasia and Persistent Primary Dentition" Genes 10, no. 10: 806. https://doi.org/10.3390/genes10100806