A missense mutation of HOXA13 underlies hand-foot-genital syndrome in a Chinese family

Cao, Lihua; Chen, Chen; Leng, Yunji; Yan, Lulu; Wang, Shusen; Zhang, Xue; Luo, Yang

doi:10.1007/s12041-017-0810-y

Cited by 6 publications

(3 citation statements)

References 19 publications

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“…HOXA13 encodes a DNA-binding transcription factor and may regulate gene expression, morphogenesis, and differentiation. It has been reported that mutated HOXA13 associated with the limb and genitourinary deformity development and can cause handfoot-genital syndrome [27]. Additionally, HOXD10 is expressed in the development of limb buds and is involved in differentiation and limb development.…”

Section: Discussionmentioning

confidence: 99%

The integrative analysis of DNA methylation and mRNA expression profiles confirmed the role of selenocompound metabolism pathway in Kashin-Beck disease

Ning

Wang

et al. 2020

Cell Cycle

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Section: Discussionmentioning

confidence: 99%

The integrative analysis of DNA methylation and mRNA expression profiles confirmed the role of selenocompound metabolism pathway in Kashin-Beck disease

Ning

Wang

et al. 2020

Cell Cycle

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“…And our previous research identified a novel mutation of HOXA10 in a patient with didelphic uterus [ 29 ]. Moreover, several nonsense mutations (p.W369X, p.S136X, p.Q196X, and p.Q365X), missense mutations within the homeodomain (p.I368F, p.N372H and p.V375F), and in-frame polyalanine expansions of HOXA13 gene have been found to cause Müllerian duct fusion defects in patients with hand-foot-genital syndrome [ 14 , 30 – 32 ]. Taken together, these results suggest that HOX genes might play important roles in the fusion of the Müllerian duct and in the resorption of the uterine septum.…”

Section: Discussionmentioning

confidence: 99%

A novel mutation of HOXA11 in a patient with septate uterus

Zhu

Cheng

Wang

et al. 2017

Orphanet J Rare Dis

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BackgroundThe etiology of Müllerian duct anomalies (MDAs) is poorly understood at present. The HOXA11 gene is crucial for the development of the Müllerian duct. The objective of this study is to report a unique case of MDAs with a novel mutation in HOXA11.ResultsWe identified a potential disease-causing mutation (p. E255K) in a patient with a septate uterus. The mutation was not detected in 169 control subjects or listed in any databases of variations. Bioinformatic predictions and functional studies showed that the mutation reduces the DNA binding affinity and disrupts transactivation ability of HOXA11.ConclusionIn conclusion, this is the first report to describe a HOXA11 mutation in Chinese women with MDAs. The results demonstrated that mutation in HOXA11 can contribute to the etiology of MDAs, especially the septate uterus, but might not be a common cause.Electronic supplementary materialThe online version of this article (10.1186/s13023-017-0727-9) contains supplementary material, which is available to authorized users.

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“…That indicates the role of genetic factors in the pathogenesis of MDAs, but the pathogenic genes are still unclear. Previous studies have found that mutations or copy number variations (CNVs) in the genes, including TBX6 , HNF1B , HOXA13 , HOXA10 , LHX1 , PBX1 , WNT9B , EMX2 , CRKL and TP63 , are associated with MDAs.…”

Section: Introductionmentioning

confidence: 99%

Sequence variant in the CDC42BPB gene is potentially associated with Mullerian duct anomalies

Luo

Feng

et al. 2020

J of Obstet and Gynaecol

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Aim: Mullerian duct anomalies (MDA) are common female genital tract malformations. Genetic and environmental factors are important causes of MDA in women. Although many genes and mutations have been found to be associated with the pathogenesis of MDA, in most cases, the genetic pathogenic factors of MDA are still unknown. Methods: We first analyzed the three sisters using low coverage whole-genome sequencing. Then wholeexome sequencing was carried out in each patient. The identified sequence variant was confirmed by Sanger sequencing. In silico pathogenicity analysis and conservative analysis of the mutation site were also performed. Protein structural modeling was used to analyze the effect of the mutated amino acid. Results: We first analyzed the three sisters with septate uterus using low coverage whole-genome sequencing, but no possible pathogenic copy number variation was found. Then whole-exome sequencing was performed on the three sisters, and a rare homozygous variant, CDC42BPB:c.2012G>A:p.R671Q, was identified. All three patients were found with this variant. Sanger sequencing validated that this variant was segregated within the family. In silico pathogenicity analysis and conservative analysis of the mutation site suggested that the variant might be damaging. Protein structural analysis suggested that R671Q might weaken the electrostatic potential of this region, which may be a significant regulation target or protein interaction surface of CDC42BPB. Conclusion: We demonstrated that CDC42BPB genetic variant might be potentially associated with the pathogenesis of MDA.

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A missense mutation of HOXA13 underlies hand-foot-genital syndrome in a Chinese family

Cited by 6 publications

References 19 publications

The integrative analysis of DNA methylation and mRNA expression profiles confirmed the role of selenocompound metabolism pathway in Kashin-Beck disease

The integrative analysis of DNA methylation and mRNA expression profiles confirmed the role of selenocompound metabolism pathway in Kashin-Beck disease

A novel mutation of HOXA11 in a patient with septate uterus

Sequence variant in the CDC42BPB gene is potentially associated with Mullerian duct anomalies

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