Phenotypic and genotypic aspects of Townes-Brock syndrome: case report of patient in southern Brazil with a new SALL1 hotspot region nonsense mutation.
| Autor: | Liberalesso PBN; Department of Neuropediatrics, Hospital Pequeno Príncipe, Curitiba, Parana, Brazil.; Universidade Tuiuti do Paraná, Otoneurology Research Center, Curitiba, Parana, Brazil., Cordeiro ML; Neurosciences Research Group, Pelé Pequeno Principe Research Institute, Curitiba, Brazil. mcordeiro@mednet.ucla.edu.; Faculdades Pequeno Principe, Curitiba, Brazil. mcordeiro@mednet.ucla.edu.; Department of Psychiatry and Biobehavioral Sciences of the David Geffen School of Medicine, Semel Institute for Neuroscience and Human Behavior, University of California, Los Angeles, USA. mcordeiro@mednet.ucla.edu., Karuta SCV; Department of Neuropediatrics, Hospital Pequeno Príncipe, Curitiba, Parana, Brazil., Koladicz KRJ; Department of Neuropediatrics, Hospital Pequeno Príncipe, Curitiba, Parana, Brazil., Nitsche A; Department of Neuropediatrics, Hospital Pequeno Príncipe, Curitiba, Parana, Brazil., Zeigelboim BS; Universidade Tuiuti do Paraná, Otoneurology Research Center, Curitiba, Parana, Brazil., Raskin S; Department of Medical Genetics, Hospital Pequeno Príncipe, Curitiba, Parana, Brazil.; Group for Advanced Molecular Investigation (NIMA), Graduate Program in Health Science (PPGCS), Health and Biosciences School (ESB), Pontifícia Universidade Católica do Paraná (PUCPR), Curitiba, Parana, Brazil., Rauchman M; Department of Internal Medicine (Nephrology), St. Louis University School of Medicine, and St. Louis VA Medical Center, St. Louis, USA. |
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| Jazyk: | angličtina |
| Zdroj: | BMC medical genetics [BMC Med Genet] 2017 Nov 06; Vol. 18 (1), pp. 125. Date of Electronic Publication: 2017 Nov 06. |
| DOI: | 10.1186/s12881-017-0483-7 |
| Abstrakt: | Background: Townes-Brocks syndrome (TBS) is a rare autosomal dominant condition characterized by renal, anal, limb, and auditory abnormalities. TBS diagnosis can be challenging in settings where genetic analysis is not readily available. TBS traits overlap with those of Goldenhar and VACTERL syndromes. Case Presentation: Here, we present the case of a 5-year-old Brazilian boy born with an anorectal abnormality, limb and external ears malformations, genitourinary anomalies, and a congenital heart defect. Genetic analysis revealed a SALL1 nonsense mutation. The case is discussed in the context of the current literature. Conclusions: Because of the variability in TBS clinical presentation, genetic analysis is key to the differential diagnosis of TBS relative to phenotypically similar syndromes. |
| Databáze: | MEDLINE |
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