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TBX3 and EFNA4 Variant in a Family with Ulnar-Mammary Syndrome and Sagittal Craniosynostosis.
Tung, Moon Ley; Chandra, Bharatendu; Kotlarek, Jaclyn; Melo, Marcelo; Phillippi, Elizabeth; Justice, Cristina M; Musolf, Anthony; Boyadijev, Simeon A; Romitti, Paul A; Darbro, Benjamin; El-Shanti, Hatem.
Afiliación
  • Tung ML; Stead Family Department of Pediatrics, Division of Medical Genetics and Genomics, University of Iowa Carver College of Medicine, Iowa City, IA 52242, USA.
  • Chandra B; Department of Medicine, National University of Singapore, Singapore 117597, Singapore.
  • Kotlarek J; Stead Family Department of Pediatrics, Division of Medical Genetics and Genomics, University of Iowa Carver College of Medicine, Iowa City, IA 52242, USA.
  • Melo M; Department of Medicine, National University of Singapore, Singapore 117597, Singapore.
  • Phillippi E; Stead Family Department of Pediatrics, Division of Medical Genetics and Genomics, University of Iowa Carver College of Medicine, Iowa City, IA 52242, USA.
  • Justice CM; Stead Family Department of Pediatrics, Division of Medical Genetics and Genomics, University of Iowa Carver College of Medicine, Iowa City, IA 52242, USA.
  • Musolf A; Stead Family Department of Pediatrics, Division of Medical Genetics and Genomics, University of Iowa Carver College of Medicine, Iowa City, IA 52242, USA.
  • Boyadijev SA; Genometrics Section, Computational and Statistical Genomics Branch, National Human Genome Research Institute, National Institutes of Health (NIH), Baltimore, MD 20892, USA.
  • Romitti PA; Statistical Genetics Section, Computational and Statistical Genomics Branch, National Human Genome Research Institute, National Institutes of Health (NIH), Baltimore, MD 20892, USA.
  • Darbro B; Department of Pediatrics, University of California Davis, Sacramento, CA 95616, USA.
  • El-Shanti H; Department of Epidemiology, College of Public Health, University of Iowa, Iowa City, IA 52242, USA.
Genes (Basel) ; 13(9)2022 09 14.
Article en En | MEDLINE | ID: mdl-36140816
Ulnar-mammary syndrome (UMS) is a rare, autosomal dominant disorder characterized by anomalies affecting the limbs, apocrine glands, dentition, and genital development. This syndrome is caused by haploinsufficiency in the T-Box3 gene (TBX3), with considerable variability in the clinical phenotype being observed even within families. We describe a one-year-old female with unilateral, postaxial polydactyly, and bilateral fifth fingernail duplication. Next-generation sequencing revealed a novel, likely pathogenic, variant predicted to affect the canonical splice site in intron 3 of the TBX3 gene (c.804 + 1G > A, IVS3 + 1G > A). This variant was inherited from the proband's father who was also diagnosed with UMS with the additional clinical finding of congenital, sagittal craniosynostosis. Subsequent whole genome analysis in the proband's father detected a variant in the EFNA4 gene (c.178C > T, p.His60Tyr), which has only been reported to be associated with sagittal craniosynostosis in one patient prior to this report but reported in other cranial suture synostosis. The findings in this family extend the genotypic spectrum of UMS, as well as the phenotypic spectrum of EFNA4-related craniosynostosis.
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Anomalías Múltiples / Enfermedades de la Mama / Craneosinostosis Tipo de estudio: Prognostic_studies Límite: Female / Humans Idioma: En Revista: Genes (Basel) Año: 2022 Tipo del documento: Article País de afiliación: Estados Unidos Pais de publicación: Suiza
Texto completo
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Anomalías Múltiples / Enfermedades de la Mama / Craneosinostosis Tipo de estudio: Prognostic_studies Límite: Female / Humans Idioma: En Revista: Genes (Basel) Año: 2022 Tipo del documento: Article País de afiliación: Estados Unidos Pais de publicación: Suiza