RESUMO
Ulnar-mammary syndrome is a rare pleiotropic disorder affecting limb, apocrine gland, tooth and genital development. We demonstrate that mutations in human TBX3, a member of the T-box gene family, cause ulnar-mammary syndrome in two families. Each mutation (a single nucleotide deletion and a splice-site mutation) is predicted to cause haploinsufficiency of TBX3, implying that critical levels of this transcription factor are required for morphogenesis of several organs. Limb abnormalities of ulnar-mammary syndrome involve posterior elements. Mutations in TBX5, a related and linked gene, cause anterior limb abnormalities in Holt-Oram syndrome. We suggest that during the evolution of TBX3 and TBX5 from a common ancestral gene, each has acquired specific yet complementary roles in patterning the mammalian upper limb.
Assuntos
Anormalidades Múltiplas/genética , Glândulas Apócrinas/anormalidades , Braço/anormalidades , Genitália/anormalidades , Mutação , Proteínas com Domínio T , Fatores de Transcrição/genética , Sequência de Aminoácidos , Sequência de Bases , Mama/anormalidades , Cromossomos Humanos Par 12 , Análise Mutacional de DNA , Feminino , Regulação da Expressão Gênica no Desenvolvimento , Humanos , Íntrons/genética , Masculino , Dados de Sequência Molecular , Alinhamento de Sequência , Síndrome , Fatores de Transcrição/químicaRESUMO
Using shared decision making, staff nurses designed a new system to support student nurses in their learning needs. This new system improved continuity of care and patient care follow through and assisted in strengthening relationships between the student, unit staff, and clinical instructors.