HOX A10 and HOX A11 mutation scan in congenital malformations of the female genital tract

Liatsikos, Spiros A.; Grimbizis, Grigoris; Georgiou, Ioannis; Papadopoulos, N.; Lazaros, Leandros; Bontis, J.; Tarlatzis, Basil C.

doi:10.1016/j.rbmo.2010.03.015

Cited by 24 publications

(23 citation statements)

References 29 publications

(29 reference statements)

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“…HOXA13 was the first gene to be identified as causative for human reproductive tract malformation (Mortlock and Innis, 1997). Later, investigations focused on HOXA10, HOXA11, HOXA13, HOXA7 and HOXA9 genes (Burel et al, 2006;Cheng et al, 2011;Ekici et al, 2013;Lalwani et al, 2008;Liatsikos et al, 2010). Novel missense and truncation variants were identified in HOXA10, which were preliminarily verified or predicted to be potentially causative (Cheng et al, 2011;Ekici et al, 2013).…”

Section: Discussionmentioning

confidence: 99%

“…Aberrant expression and methylation of HOXA9 was found in patients with MRKH (Rall et al, 2011). HOXA genes have long been considered candidates for MDA, owing to the fundamental role played in embryological genitalia and reproduction (Burel et al, 2006;Cheng et al, 2011;Ekici et al, 2013;Lalwani et al, 2008;Liatsikos et al, 2010). Few studies had been conducted on HOXA7 and HOXA9 genes, except for mutational screening in six patients with MRKH (Burel et al, 2006).…”

Section: Introductionmentioning

confidence: 99%

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Mutation screening of HOXA7 and HOXA9 genes in Chinese women with Müllerian duct abnormalities

Chen

et al. 2014

Reproductive BioMedicine Online

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HOXA genes in groups 7-13 have been proven to play a role in determining positional identity along the genitalia axis. The aim of the present study was to explore the relationship between HOXA7 and HOXA9 mutations and Müllerian duct abnormalities (MDA). One hundred and ninety-two Chinese patients with MDA abnormalities and 192 healthy controls were recruited. All coding regions of HOXA7 and HOXA9 were amplified and sequenced directly. Rs2301721 and rs2301720 in HOXA7, rs35355140 and rs7810502 in HOXA9 were identified in patients with MDA and controls. One rare single nucleotide polymorphism rs189587233 in 3' UTR of HOXA9 gene was detected in one patient with didelphic uterus and absent in the 192 controls. This polymorphism, however, is known to exist in the normal Chinese population. Our results indicated that variants in the HOXA7 and HOXA9 genes were not common in Chinese women with Müllerian duct abnormalities.

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Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Mutation screening of HOXA7 and HOXA9 genes in Chinese women with Müllerian duct abnormalities

Chen

et al. 2014

Reproductive BioMedicine Online

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“…HOXA10 and HOXA 11, previously discussed as being expressed in the uterus, have been investigated. Liatsikos et al [74] examined 30 women with Müllerian defects. Only one patient was found to have a mutation in HOXA10, however her mother had a similar mutation but was notably phenotypically normal [74].…”

Section: Incomplete Müllerian Fusionmentioning

confidence: 99%

“…Liatsikos et al [74] examined 30 women with Müllerian defects. Only one patient was found to have a mutation in HOXA10, however her mother had a similar mutation but was notably phenotypically normal [74]. Cheng et al [75] conducted a mutation analysis in 109 Chinese women with Müllerian anomalies and found one mutation (Y57C) was found in HOXA10 that affected the gene's ability to induce and repress other genes.…”

Section: Incomplete Müllerian Fusionmentioning

confidence: 99%

“…Notably, despite the association between MRKH with both galactosemia and cystic fibrosis, studies found no link between mutations in GALT and CFTR genes and the MRKH phenotype [87,88]. Investigations into Hoxa10, Hoxa11, and analysis of PBX1, a cofactor of HOX genes, have failed to determine a cause of Müllerian aplasia [74,78]. Subsets of MRKH, especially cases associated with genetic syndromes, have been attributed to specific genetic etiologies.…”

Section: Müllerian Aplasiamentioning

confidence: 99%

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Genetic Syndromes and Genes Involved in the Development of the Female Reproductive Tract: A Possible Role for Gene Therapy

Owen¹,

JH²

2013

J Genet Syndr Gene Ther

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Müllerian and vaginal anomalies are congenital malformations of the female reproductive tract resulting from alterations in the normal developmental pathway of the uterus, cervix, fallopian tubes, and vagina. The most common of the Müllerian anomalies affect the uterus and may adversely impact reproductive outcomes highlighting the importance of gaining understanding of the genetic mechanisms that govern normal and abnormal development of the female reproductive tract. Modern molecular genetics with study of knock out animal models as well as several genetic syndromes featuring abnormalities of the female reproductive tract have identified candidate genes significant to this developmental pathway. Further emphasizing the importance of understanding female reproductive tract development, recent evidence has demonstrated expression of embryologically significant genes in the endometrium of adult mice and humans. This recent work suggests that these genes not only play a role in the proper structural development of the female reproductive tract but also may persist in adults to regulate proper function of the endometrium of the uterus. As endometrial function is critical for successful implantation and pregnancy maintenance, these recent data suggest a target for gene therapy. Future research will be needed to determine if gene therapy may improve reproductive outcomes for patients with demonstrated deficient endometrial expression related to abnormal gene expression.

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Etiologies of uterine malformations

Jacquinet

Millar

Lehman

2016

American J of Med Genetics Pt A

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Ranging from aplastic uterus (including Mayer-Rokitansky-Kuster-Hauser syndrome) to incomplete septate uterus, uterine malformations as a group are relatively frequent in the general population. Specific causes remain largely unknown. Although most occurrences ostensibly seem sporadic, familial recurrences have been observed, which strongly implicate genetic factors. Through the study of animal models, human syndromes, and structural chromosomal variation, several candidate genes have been proposed and subsequently tested with targeted methods in series of individuals with isolated, non-isolated, or syndromic uterine malformations. To date, a few genes have garnered strong evidence of causality, mainly in syndromic presentations (HNF1B, WNT4, WNT7A, HOXA13). Sequencing of candidate genes in series of individuals with isolated uterine abnormalities has been able to suggest an association for several genes, but confirmation of a strong causative effect is still lacking for the majority of them. We review the current state of knowledge about the developmental origins of uterine malformations, with a focus on the genetic variants that have been implicated or associated with these conditions in humans, and we discuss potential reasons for the high rate of negative results. The evidence for various environmental and epigenetic factors is also reviewed. © 2016 Wiley Periodicals, Inc.

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HOX A10 and HOX A11 mutation scan in congenital malformations of the female genital tract

Cited by 24 publications

References 29 publications

Mutation screening of HOXA7 and HOXA9 genes in Chinese women with Müllerian duct abnormalities

Mutation screening of HOXA7 and HOXA9 genes in Chinese women with Müllerian duct abnormalities

Genetic Syndromes and Genes Involved in the Development of the Female Reproductive Tract: A Possible Role for Gene Therapy

Etiologies of uterine malformations

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