ArticleBMC medical genetics2017
Clinical diagnostic exome evaluation for an infant with a lethal disorder: genetic diagnosis of TARP syndrome and expansion of the phenotype in a patient with a newly reported RBM10 alteration.
Article in BMC medical genetics, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers, 1 of them a synthesis that pooled it.
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Who cites it
14 citing papers in PubMed, 1 synthesis or guideline pooled it, 25 citations in OpenAlex.
- Genetics of non-isolated hemivertebra: A systematic review of fetal, neonatal, and infant cases.Clinical genetics · 2022Pooled it
- Functional insight into a neurodevelopmental disorder caused by missense variants in an RNA-binding protein, RBM10.Journal of human genetics · 2023Article
- Article
- Krüppel-like factor 7 deficiency causes autistic-like behavior in mice via regulating Clock gene.Cell & bioscience · 2022Article
- A Frameshift RBM10 Variant Associated With TARP Syndrome.Frontiers in genetics · 2022Article
- Integrated Bioinformatics Analysis and Validation of the Prognostic Value ofCancer management and research · 2022Article
- Review
- TARP syndrome associated with renal malformation and optic nerve atrophy.BMJ case reports · 2021Article
- Genetic Mutations Associated with Pierre Robin Syndrome/Sequence: A Systematic Review.Molecular syndromology · 2021Review
- RBM10 Regulates Tumor Apoptosis, Proliferation, and Metastasis.Frontiers in oncology · 2021Review
- Diagnosis of genetic diseases in seriously ill children by rapid whole-genome sequencing and automated phenotyping and interpretation.Science translational medicine · 2019Article
- Clinical Application of Genome and Exome Sequencing as a Diagnostic Tool for Pediatric Patients: a Scoping Review of the Literature.Genetics in medicine : official journal of the American College of Medical Genetics · 2019Article
- First reported adult patient with TARP syndrome: A case report.American journal of medical genetics. Part A · 2018Article
- RBM10: Harmful or helpful-many factors to consider.Journal of cellular biochemistry · 2018Review
Corrections and comments
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Authors and funding
7 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundDiagnostic Exome Sequencing (DES) has been shown to be an effective tool for diagnosis individuals with suspected genetic conditions. CASE PRESENTATION: We report a male infant born with multiple anomalies including bilateral dysplastic kidneys, cleft palate, bilateral talipes, and bilateral absence of thumbs and first toes. Prenatal testing including chromosome analysis and microarray did not identify a cause for the multiple congenital anomalies. Postnatal diagnostic exome studies (DES) were utilized to find a molecular diagnosis for the patient. Exome sequencing of the proband, mother, and father showed a previously unreported maternally inherited RNA binding motif protein 10 (RBM10) c.1352_1353delAG (p.E451Vfs*66) alteration. Mutations in RBM10 are associated with TARP syndrome, an X-linked recessive disorder originally described with cardinal features of talipes equinovarus, atrial septal defect, Robin sequence, and persistent left superior vena cava.
conclusionDES established a molecular genetic diagnosis of TARP syndrome for a neonatal patient with a poor prognosis in whom traditional testing methods were uninformative and allowed for efficient diagnosis and future reproductive options for the parents. Other reported cases of TARP syndrome demonstrate significant variability in clinical phenotype. The reported features in this infant including multiple hemivertebrae, imperforate anus, aplasia of thumbs and first toes have not been reported in previous patients, thus expanding the clinical phenotype for this rare disorder.
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