ReviewMolecular genetics & genomic medicine2022
A novel frameshift mutation of DVL1-induced Robinow syndrome: A case report and literature review.
Review in Molecular genetics & genomic medicine, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7 papers.
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7 citing papers in PubMed, 12 citations in OpenAlex.
- Robinow syndrome DVL1 variants disrupt morphogenesis and appendage formation in a Drosophila disease model.Developmental dynamics : an official publication of the American Association of Anatomists · 2026Article
- The abnormal C-terminus caused by DVL1 variants impacts Robinow syndrome phenotypes.Human molecular genetics · 2026Article
- In-Depth Genomic Analysis: The New Challenge in Congenital Heart Disease.International journal of molecular sciences · 2024Review
- Expression Levels of WNT Signaling Pathway Genes During Early Tooth Development.Organogenesis · 2023Review
- Mechanistic studies in Drosophila and chicken give new insights into functions of DVL1 in dominant Robinow syndrome.Disease models & mechanisms · 2023Article
- TBX6 as a cause of a combined skeletal-kidney dysplasia syndrome.American journal of medical genetics. Part A · 2022Article
- A novel frameshift mutation of DVL1-induced Robinow syndrome: A case report and literature review.Molecular genetics & genomic medicine · 2022Review
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4 authors at 1 institution in 1 country.
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Abstract
backgroundRobinow syndrome is a rare genetic disorder that affects the development of multiple systems. Due to its low prevalence and diversity of phenotypic presentation it has been challenging to definitively characterize features of Robinow syndrome.
methodsWe performed DNA extraction, whole-exome sequencing analysis, and mutation analysis of DVL1 to obtain genetic data on the patient. We subsequently analyzed the patient's clinical and genetic data.
resultsThe proband was a 3-month-old female infant who suffered from significant global developmental delay and metabolic disorder. The main clinical manifestations included facial dysmorphisms, bilateral dislocation of the hip joint, and hearing impairment. Whole-exome sequencing of the patient's DNA revealed a heterozygous mutation of c.1620delC in DVL1. Analysis with the MutationTaster application indicated that both were pathogenic (probability = 1), causing frameshift mutations affecting 107 amino acids (p.S542Vfs*107). Significant structural changes were identified in the amino acid sequence after the WNT signaling-related DEP domain site was predicted using the AlphaFold Protein structure database. The stability of the three main domains was then evaluated using SWISS-MODEL, and indicated that the mutation did not alter the DIX, PDZ, or DEP domain sequences. Because all reported pathogenic mutations were located near the DEP domain, we speculated that structural changes around the DEP domain may have impaired WNT domain function and WNT signaling, resulting in Robinow syndrome.
conclusionThe present case suggests that molecular genetic screening is useful for the diagnosis of developmental disorders, particularly in children with a positive family history. In the current patient all the related pathological variants were located within a narrow locus. This report expands the known manifestations of Robinow syndrome and contributes to refinement of its molecular basis.
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