Multiple abnormalities due to a nonsense mutation in the Alx4 gene

Chen, B.; Chen, Lu; Zhou, Yongshuang; Mi, Ting; Chen, D.Y.; Chen, Li; Yin, Jinfang; Zhang, Xue

doi:10.4238/2013.august.2.2

Cited by 6 publications

(4 citation statements)

References 16 publications

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“…In addition, a study in the ENU-induced mouse mutant Alx4 m1Yzcm described multiple abnormalities including preaxial polydactyly, malformation (truncation) of the tibia, loss of pubic bones, and formation of omphalocele [48]. These findings show certain similarities to the phenotypic characteristics of the two stillborn calves reported herein and support our hypothesis that ALX4 is the most likely candidate for TH in Galloway cattle.…”

Section: Discussionsupporting

confidence: 83%

A 20 bp Duplication in Exon 2 of the Aristaless-Like Homeobox 4 Gene (ALX4) Is the Candidate Causative Mutation for Tibial Hemimelia Syndrome in Galloway Cattle

et al. 2015

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Aristaless-like homeobox 4 (ALX4) gene is an important transcription regulator in skull and limb development. In humans and mice ALX4 mutations or loss of function result in a number of skeletal and organ malformations, including polydactyly, tibial hemimelia, omphalocele, biparietal foramina, impaired mammary epithelial morphogenesis, alopecia, coronal craniosynostosis, hypertelorism, depressed nasal bridge and ridge, bifid nasal tip, hypogonadism, and body agenesis. Here we show that a complex skeletal malformation of the hind limb in Galloway cattle together with other developmental anomalies is a recessive autosomal disorder most likely caused by a duplication of 20 bp in exon 2 of the bovine ALX4 gene. A second duplication of 34 bp in exon 4 of the same gene has no known effect, although both duplications result in a frameshift and premature stop codon leading to a truncated protein. Genotyping of 1,688 Black/Red/Belted/Riggit Galloway (GA) and 289 White Galloway (WGA) cattle showed that the duplication in exon 2 has allele frequencies of 1% in GA and 6% in WGA and the duplication in exon 4 has frequencies of 23% in GA and 38% in WGA. Both duplications were not detected in 876 randomly selected German Holstein Friesian and 86 cattle of 21 other breeds. Hence, we have identified a candidate causative mutation for tibial hemimelia syndrome in Galloway cattle and selection against this mutation can be used to eliminate the mutant allele from the breed.

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Section: Discussionsupporting

confidence: 83%

A 20 bp Duplication in Exon 2 of the Aristaless-Like Homeobox 4 Gene (ALX4) Is the Candidate Causative Mutation for Tibial Hemimelia Syndrome in Galloway Cattle

et al. 2015

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“…Alx4 loss-of-function mutations result in frontonasal dysplasia type 2. Heterozygous mice show a single extra digit in the preaxial part of one of the hindlimbs, whereas homozygous mice show a complex phenotype including extensive preaxial polydactyly, tibial anomalies, craniofacial defects, and hypomorphic interfollicular epidermis with reduced suprabasal layers [80,81].…”

Section: Alx Gene Familymentioning

confidence: 99%

Inherited Eye Diseases with Retinal Manifestations through the Eyes of Homeobox Genes

Markitantova

Симирский

2020

IJMS

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Retinal development is under the coordinated control of overlapping networks of signaling pathways and transcription factors. The paper was conceived as a review of the data and ideas that have been formed to date on homeobox genes mutations that lead to the disruption of eye organogenesis and result in inherited eye/retinal diseases. Many of these diseases are part of the same clinical spectrum and have high genetic heterogeneity with already identified associated genes. We summarize the known key regulators of eye development, with a focus on the homeobox genes associated with monogenic eye diseases showing retinal manifestations. Recent advances in the field of genetics and high-throughput next-generation sequencing technologies, including single-cell transcriptome analysis have allowed for deepening of knowledge of the genetic basis of inherited retinal diseases (IRDs), as well as improve their diagnostics. We highlight some promising avenues of research involving molecular-genetic and cell-technology approaches that can be effective for IRDs therapy. The most promising neuroprotective strategies are aimed at mobilizing the endogenous cellular reserve of the retina.

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“…It plays an essential role in skeletal and skin development and it is high expressed in skeletal and smooth muscles. Disorder in Alx4 causes omphalocele in mice [37]. FGFR1 and FGFR2 (fibroblast growth factor receptors 1 and 2) are thyrosine protein kinase respectively located on 8p11.23 and 10q26.13.…”

Section: Gene Mutationsmentioning

confidence: 99%

Omphalocele: a review of common genetic etiologies

Poaty

Pelluard

Diallo

et al. 2019

Egypt J Med Hum Genet

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Omphalocele is one of the most common congenital defects in the anterior abdominal wall. The malformation is associated with various pathologies especially with chromosomal disorders. The developmental defect is observed in Congolese hospitals, but risk factors are not well precised on the published case reports, which are more often focused on management. We aim in this paper to make a review on the condition, insisting on the risk factors of omphaloceles mainly of those of genetic origins.

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Multiple abnormalities due to a nonsense mutation in the Alx4 gene

Cited by 6 publications

References 16 publications

A 20 bp Duplication in Exon 2 of the Aristaless-Like Homeobox 4 Gene (ALX4) Is the Candidate Causative Mutation for Tibial Hemimelia Syndrome in Galloway Cattle

A 20 bp Duplication in Exon 2 of the Aristaless-Like Homeobox 4 Gene (ALX4) Is the Candidate Causative Mutation for Tibial Hemimelia Syndrome in Galloway Cattle

Inherited Eye Diseases with Retinal Manifestations through the Eyes of Homeobox Genes

Omphalocele: a review of common genetic etiologies

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