<i>Syndactyly lethal</i>: New mutation with multiple malformations occurring in Sprague Dawley rats

Fujii, Sakiko; Yabe, Kaoru; Kimura, Yûki; Ito, Yukie; Rokukawa, Masumi; Furukawa, Masatoshi; Ito, Kouta; Matsuura, Mamoru; Kiguchi, Masao

doi:10.1111/j.1741-4520.2009.00244.x

Cited by 7 publications

(4 citation statements)

References 43 publications

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“…Tùy thuộc vào từng phân nhóm, dị tật này có thể chỉ bao gồm các mô mềm ở các thể nhẹ. Ở các thể nặng hơn, phần mô ngón bị [4][5][6]. Một số gen đã được các nghiên cứu trên thế giới chỉ ra trực tiếp gây nên dị tật dính ngón chân tay và những bất thường khác ở bàn tay, bàn chân như: HOXD13 [7], LRP4 [8], GJA1 [9] và nhiều gen khác.…”

Section: Mở đầUunclassified

Detection of a Novel Mutation on the Gene ESCO2 in a Pediatric Patient with Syndactyly

Ngoc¹,

Anh²,

Dương³

et al. 2020

NST

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Syndactyly is a congenital disease caused by the limb formation abnormalities during fetal development. In this research, we studied the genetic mutations in a pediatric patient with 3rd and 4th fingers were fused together, symmetrically using the whole exome sequencing techniques based on Next generation sequencing. The obtained data revealed a novel mutation located in exon 11 of the gene ESCO2: c.1745A>G: p.582K>R. Sequence verification by Sanger sequencing confirmed the existence of this mutation in the patient as heterozygous form. In silico prediction using PredictSNP, PhD-SNP, PROVEAN or Polyphen-2 tools indicated that the mutation was likely to affect the structure and function of Acetyltransferase? (encoded by ESCO2 gene). Further studies will be performed to analyze the effect of this mutations on the intracellular protein network associated with syndactyly.

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Section: Mở đầUunclassified

Detection of a Novel Mutation on the Gene ESCO2 in a Pediatric Patient with Syndactyly

Ngoc¹,

Anh²,

Dương³

et al. 2020

NST

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“…Its occurrence in males is twice that in females, and mothers aged 40 years or older are more likely to produce children with inborn limb deformities compared to mothers who are 30 years of age or younger [5]. SD is genetic in origin; clinically, it is an extremely heterogeneous developmental deformity [6]. It may be symmetrical or asymmetrical and unilateral or bilateral.…”

Section: Introductionmentioning

confidence: 99%

Recent Advances in Syndactyly: Basis, Current Status and Future Perspectives

Zaib

Rashid

Khan

et al. 2022

Genes

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A comprehensive summary of recent knowledge in syndactyly (SD) is important for understanding the genetic etiology of SD and disease management. Thus, this review article provides background information on SD, as well as insights into phenotypic and genetic heterogeneity, newly identified gene mutations in various SD types, the role of HOXD13 in limb deformities, and recently introduced modern surgical techniques for SD. This article also proposes a procedure for genetic analysis to obtain a clearer genotype–phenotype correlation for SD in the future. We briefly describe the classification of non-syndromic SD based on variable phenotypes to explain different phenotypic features and mutations in the various genes responsible for the pathogenesis of different types of SD. We describe how different types of mutation in HOXD13 cause various types of SD, and how a mutation in HOXD13 could affect its interaction with other genes, which may be one of the reasons behind the differential phenotypes and incomplete penetrance. Furthermore, we also discuss some recently introduced modern surgical techniques, such as free skin grafting, improved flap techniques, and dermal fat grafting in combination with the Z-method incision, which have been successfully practiced clinically with no post-operative complications.

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“…The phenotype of a specific patient appears to be dependent on a specific gene, as well as their genetic background and the subsequent signaling pathways involved in limb formation (3). Non-syndromic syndactyly is genetic in origin (5). At present, at least 11 disease loci and eight disease-associated genes have been identified, including the homeobox D13 gene (HOXD13), the fibulin 1 gene, the gap junction protein alpha 1 gene, the limb development membrane protein 1 gene, the LDL receptor related protein 4 gene, the gremlin 1 gene, the formin 1 gene and the fibroblast growth factor 16 gene (1,6).…”

Section: Introductionmentioning

confidence: 99%

Identification of a missense HOXD13 mutation in a Chinese family with syndactyly type I-c using exome sequencing

Deng

Tan

et al. 2017

Molecular Medicine Reports

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Syndactyly is one of the most common hereditary limb malformations, and is characterized by the fusion of specific fingers and/or toes. Syndactyly type I‑c is associated with bilateral cutaneous or bony webbing of the third and fourth fingers and occasionally of the third to fifth fingers, with normal feet. The aim of the present study was to identify the genetic basis of syndactyly type I‑c in four generations of a Chinese Han family by exome sequencing. Exome sequencing was conducted in the proband of the family, followed by direct sequencing of other family members of the same ancestry, as well as 100 ethnically‑matched, unrelated normal controls. A missense mutation, c.917G>A (p.R306Q), was identified in the homeobox D13 gene (HOXD13). Sanger sequencing verified the presence of this mutation in all of the affected family members. By contrast, this mutation was absent in the unaffected family members and the 100 ethnically‑matched normal controls. The results suggest that the c.917G>A (p.R306Q) mutation in the HOXD13 gene, may be responsible for syndactyly type I‑c in this family. Exome sequencing may therefore be a powerful tool for identifying mutations associated with syndactyly, which is a disorder with high genetic and clinical heterogeneity. The results provide novel insights into the etiology and diagnosis of syndactyly, and may influence genetic counseling and the clinical management of the disease.

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Syndactyly lethal: New mutation with multiple malformations occurring in Sprague Dawley rats

Cited by 7 publications

References 43 publications

Detection of a Novel Mutation on the Gene ESCO2 in a Pediatric Patient with Syndactyly

Detection of a Novel Mutation on the Gene ESCO2 in a Pediatric Patient with Syndactyly

Recent Advances in Syndactyly: Basis, Current Status and Future Perspectives

Identification of a missense HOXD13 mutation in a Chinese family with syndactyly type I-c using exome sequencing

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