ArticleBMC medical genetics2016
Sacral agenesis: a pilot whole exome sequencing and copy number study.
Article in BMC medical genetics, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 8 papers.
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Who cites it
8 citing papers in PubMed, 17 citations in OpenAlex.
- Article
- Caudal Regression Syndrome-A Narrative Review: An Orthopedic Point of View.Children (Basel, Switzerland) · 2023Review
- The clinical value of prenatal ultrasound in the diagnosis of caudal regression syndrome.American journal of translational research · 2023Article
- Exome sequencing identifies variants in infants with sacral agenesis.Birth defects research · 2022Article
- Epigenome-wide gene-age interaction study reveals reversed effects ofFrontiers in oncology · 2022Article
- Caudal Regression Syndrome.Children (Basel, Switzerland) · 2020Article
- Urine retention as the first presentation of congenital absence of the sacrum: A case report of a rare clinical phenomenon.Medicine · 2018Article
- Genetic Markers of Spina Bifida in an Indian Cohort.Journal of Indian Association of Pediatric SurgeonsArticle
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Authors and funding
12 authors at 4 institutions in 4 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundCaudal regression syndrome (CRS) or sacral agenesis is a rare congenital disorder characterized by a constellation of congenital caudal anomalies affecting the caudal spine and spinal cord, the hindgut, the urogenital system, and the lower limbs. CRS is a complex condition, attributed to an abnormal development of the caudal mesoderm, likely caused by the effect of interacting genetic and environmental factors. A well-known risk factor is maternal type 1 diabetes.
methodWhole exome sequencing and copy number variation (CNV) analyses were conducted on 4 Caucasian trios to identify de novo and inherited rare mutations.
resultsIn this pilot study, exome sequencing and copy number variation (CNV) analyses implicate a number of candidate genes, including SPTBN5, MORN1, ZNF330, CLTCL1 and PDZD2. De novo mutations were found in SPTBN5, MORN1 and ZNF330 and inherited predicted damaging mutations in PDZD2 (homozygous) and CLTCL1 (compound heterozygous). Importantly, predicted damaging mutations in PTEN (heterozygous), in its direct regulator GLTSCR2 (compound heterozygous) and in VANGL1 (heterozygous) were identified. These genes had previously been linked with the CRS phenotype. Two CNV deletions, one de novo (chr3q13.13) and one homozygous (chr8p23.2), were detected in one of our CRS patients. These deletions overlapped with CNVs previously reported in patients with similar phenotype.
conclusionDespite the genetic diversity and the complexity of the phenotype, this pilot study identified genetic features common across CRS patients.
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