ArticleBirth defects research2019
HSPA6: A new autosomal recessive candidate gene for the VATER/VACTERL malformation spectrum.
Article in Birth defects research, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers.
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Who cites it
12 citing papers in PubMed, 19 citations in OpenAlex.
- Loss ofGenes & diseases · 2026Article
- Spatial transcriptomics reveals gene interactions and signaling pathway dynamics in rat embryos with anorectal malformation.Cell biology and toxicology · 2024Article
- A novel genotype-phenotype between persistent-cloaca-related VACTERL and mutations of 8p23 and 12q23.1.Pediatric research · 2024Review
- ROR2 deficit may induce the tetralogy of Fallot via down-regulating of β-catenin/SOX3/HSPA6 in vitro and in vivo.Journal of cellular and molecular medicine · 2023Article
- Genetic Disruption of Cilia-Associated Signaling Pathways in Patients with VACTERL Association.Children (Basel, Switzerland) · 2023Article
- High molecular diagnostic yields and novel phenotypic expansions involving syndromic anorectal malformations.European journal of human genetics : EJHG · 2023Article
- HSPA6, a novel prognostic and therapeutic biomarker, associated with Ming classification in gastric cancer.Journal of clinical laboratory analysis · 2023Article
- HSPA6 and its role in cancers and other diseases.Molecular biology reports · 2022Review
- High abundance of CDC45 inhibits cell proliferation through elevation of HSPA6.Cell proliferation · 2022Article
- The Classification of VACTERL Association into 3 Groups According to the Limb Defect.Plastic and reconstructive surgery. Global open · 2021Article
- Distinct Mitochondrial Pathologies Caused by Mutations of the Proximal Tubular Enzymes EHHADH and GATM.Frontiers in physiology · 2021Review
- A Genetics-First Approach Revealed Monogenic Disorders in Patients With ARM and VACTERL Anomalies.Frontiers in pediatrics · 2020Article
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Authors and funding
11 authors at 6 institutions in 4 countries.
Funding
Abstract
backgroundThe VATER/VACTERL association refers to the nonrandom co-occurrence of at least three of the following component features (CFs): vertebral defects (V), anorectal malformations (ARM) (A), cardiac defects (C), tracheoesophageal fistula with or without esophageal atresia (TE), renal malformations (R), and limb defects (L). Patients presenting with two CFs have been termed VATER/VACTERL-like phenotypes.
methodsWe surveyed the exome for recessive disease variants in three affected sib-pairs. Sib-pair 971 consisted of two brothers with ARM and additional hydronephrosis in one brother. Sib-pair 1098 consisted of two sisters with ARM. In family 1346, the daughter presented with ARM and additional hypoplasia of both small fingers and ankyloses. Her brother presented with unilateral isolated radial hypoplasia. Sib-pairs 971 and 1346 resembled a VATER/VACTERL-like phenotype.
resultsWe detected a novel maternally inherited missense variant (c.1340G > T) and a rare paternally inherited deletion of the trans-allele in HSPA6 in both siblings of family 1346. HSPA6 belongs to the heat shock protein (HSP) 70 family. Re-sequencing of HSPA6 in 167 patients with VATER/VACTERL and VATER/VACTERL-like phenotypes did not reveal any additional bi-allelic variants.
conclusionsUntil now, only TNF-receptor associated protein 1 (TRAP1) had been reported as an autosomal recessive disease-gene for the VATER/VACTERL association. TRAP1 belongs to the heat shock protein 90 family (HSP90). Both Hsp70 and Hsp90 genes have been shown to be important embryonic drivers in the formation of mouse embryonic forelimb tissue. Our results suggest HSPA6 as a new candidate gene in VATER/VACTERL-like phenotypes.
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