Mutation screening of SEMA3A and SEMA7A in patients with congenital hypogonadotropic hypogonadism

Känsäkoski, Johanna; Fagerholm, Rainer; Laitinen, Eeva-Maria; Vaaralahti, Kirsi; Hackman, Peter; Pitteloud, Nelly; Raivio, Taneli; Tommiska, Johanna

doi:10.1038/pr.2014.23

Cited by 66 publications

(50 citation statements)

References 23 publications

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“…3b). Three missense changes in SEMA3A have also been identified recently in 3 probands with KS belonging to a Finnish cohort [108], of which 2 were identical to mutations previously reported by us [50] (fig. 3b).…”

Section: Semaphorin Mutations In Human Hypogonadotropic Hypogonadismsupporting

confidence: 71%

“…3b). In the same study, these authors also reported two rare heterozygous variants of the SEMA7A gene in 1 CHH patient with a previously identified KISS1R non-sense variant and 1 KS patient carrying a mutation in KAL1 [108]. …”

Section: Semaphorin Mutations In Human Hypogonadotropic Hypogonadismmentioning

confidence: 98%

“…Mutations affecting several disease-causing genes have been shown to be associated with the onset of CHH or KS [86], and these include Anosmin-1 (or KAL1 ) [87,88], FGFR1 [89], FGF8 [90], FGF17 , IL17RD , DUSP6 , SPRY4 , FLRT3 [91], GNRH1 [92,93]/ GNRHR [84,94], KISS1 [95]/ KISS1R [96,97], TAC3/TACR3 [98], NELF [99], PROK2 , PROKR2 [100,101], CHD7 [102], HS6ST1 [103], WDR11 [104], FEZF1 [105], SOX10 [106], SEMA3A [50,107,108] and SEMA7A [108]. …”

Section: Semaphorin Mutations In Human Hypogonadotropic Hypogonadismmentioning

confidence: 99%

See 2 more Smart Citations

Shaping the Reproductive System: Role of Semaphorins in Gonadotropin-Releasing Hormone Development and Function

Giacobini¹

2015

Neuroendocrinology

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The semaphorin proteins, which contribute to the morphogenesis and homeostasis of a wide range of systems, are among the best-studied families of guidance cues. Much recent research has focused on the role of semaphorins in the development and adult activity of hormone systems and, reciprocally, how circulating reproductive hormones regulate their expression and function. Specifically, several reports have focused on the molecular mechanisms underlying the effects of semaphorins on the migration, survival and structural and functional plasticity of neurons that secrete gonadotropin-releasing hormone (GnRH), essential for the acquisition and maintenance of reproductive competence in mammals. Alterations in the development of this neuroendocrine system lead to anomalous or absent GnRH secretion, resulting in heterogeneous reproductive disorders such as congenital hypogonadotropic hypogonadism (CHH) or other conditions characterized by infertility or subfertility. This review summarizes current knowledge of the role of semaphorins and their receptors on the development, differentiation and plasticity of the GnRH system. In addition, the involvement of genetic deficits in semaphorin signaling in some forms of CHH in humans is discussed.

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Section: Semaphorin Mutations In Human Hypogonadotropic Hypogonadismsupporting

confidence: 71%

Section: Semaphorin Mutations In Human Hypogonadotropic Hypogonadismmentioning

confidence: 98%

Section: Semaphorin Mutations In Human Hypogonadotropic Hypogonadismmentioning

confidence: 99%

See 1 more Smart Citation

Shaping the Reproductive System: Role of Semaphorins in Gonadotropin-Releasing Hormone Development and Function

Giacobini¹

2015

Neuroendocrinology

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“…Genes encoding fibroblast growth factor 8 (FGF8) signalling pathway proteins, [17][18][19][20][21][22] chromodomain helicase DNA-binding protein 7 (CHD7) [23][24][25][26][27] and sex determining region Y-Box 10 (SOX10) 28,29 affect the neurogenic niche in the nasal area and craniofacial development. Conversely, Kallmann syndrome protein, which is now officially known as anosmin 1 (encoded by KAL1; following nomenclature change, the gene is now denoted as ANOS1), 2 prokineticin-2 and prokineticin receptor 2 (encoded by PROK2 and PROKR2, respectively), [30][31][32][33] WD repeat domain 11 (encoded by WDR11), 34,35 semaphorin 3A (encoded by SEMA3A) [36][37][38] and FEZ family zinc finger 1 (encoded by FEZF1) 39 influence migration of GnRH neurons.…”

Section: Biology Of the Gnrh Neuronal Systemmentioning

confidence: 99%

“…117,118 To date, >25 different genes have been implicated in Kallmann syndrome and/or CHH, which accounts for ~50% of cases. 21 Causative genes for Kallmann syndrome include: KAL1 (ANOS1) in the X-linked form; FGFR1 (encoding fibroblast growth factor receptor 1), 17,18 FGF8, 19,119 CHD7, [23][24][25][26][27] HS6ST1 (encoding heparan-sulphate 6-O-sulphotransferase 1), 20 SOX10, 28,29 SEMA3A (encoding semaphorin-3A), [36][37][38] WDR11 (encoding WD repeat-containing protein 11) 34,35 and IL17RD (encoding interleukin-17 receptor D) 21 in the autosomal dominant form; and PROKR2 and/or PROK2, [30][31][32][33] and FEZF1 39 in the autosomal recessive form, even though it should be noted that most patients carrying mutations in PROKR2 or PROK2 carry these mutations in the heterozygous state. 120,121 Genes involved in CHH that are associated with a normal sense of smell include GNRHR (encoding gonadotropinreleasing hormone receptor), 122,123 GNRH1 (encoding gonadotropin-releasing hormone 1), 124,125 KISS1R, 41,42 KISS1, 40,126 TACR3 and TAC3.…”

Section: Genetics Of Chhmentioning

confidence: 99%

European Consensus Statement on congenital hypogonadotropic hypogonadism—pathogenesis, diagnosis and treatment

et al. 2015

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| Congenital hypogonadotropic hypogonadism (CHH) is a rare disorder caused by the deficient production, secretion or action of gonadotropin-releasing hormone (GnRH), which is the master hormone regulating the reproductive axis. CHH is clinically and genetically heterogeneous, with >25 different causal genes identified to date. Clinically, the disorder is characterized by an absence of puberty and infertility. The association of CHH with a defective sense of smell (anosmia or hyposmia), which is found in ~50% of patients with CHH is termed Kallmann syndrome and results from incomplete embryonic migration of GnRHsynthesizing neurons. CHH can be challenging to diagnose, particularly when attempting to differentiate it from constitutional delay of puberty. A timely diagnosis and treatment to induce puberty can be beneficial for sexual, bone and metabolic health, and might help minimize some of the psychological effects of CHH. In most cases, fertility can be induced using specialized treatment regimens and several predictors of outcome have been identified. Patients typically require lifelong treatment, yet ~10-20% of patients exhibit a spontaneous recovery of reproductive function. This Consensus Statement summarizes approaches for the diagnosis and treatment of CHH and discusses important unanswered questions in the field.

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Unveiling the Importance of Glia and Vascular Endothelial Cells in the Control of GnRH Neuronal Function

Prévot

Sharif

2018

The GnRH Neuron and Its Control

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Mutation screening of SEMA3A and SEMA7A in patients with congenital hypogonadotropic hypogonadism

Cited by 66 publications

References 23 publications

Shaping the Reproductive System: Role of Semaphorins in Gonadotropin-Releasing Hormone Development and Function

Shaping the Reproductive System: Role of Semaphorins in Gonadotropin-Releasing Hormone Development and Function

European Consensus Statement on congenital hypogonadotropic hypogonadism—pathogenesis, diagnosis and treatment

Unveiling the Importance of Glia and Vascular Endothelial Cells in the Control of GnRH Neuronal Function

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