Exome sequencing identifies novel NTRK1 mutations in patients with HSAN-IV phenotype.

Altassan, Ruqaiah; Saud, Haya Al; Masoodi, Tariq Ahmad; Dosssari, Haya Al; Khalifa, Ola; Al-Zaidan, Hamad; Sakati, Nadia; Rhabeeni, Zuhair; Al-Hassnan, Zuhair; Binamer, Yousef; Alhashemi, Nadia; Wade, William; Al-Zayed, Zayed; Al-Sayed, Moeen; Al-Muhaizea, Mohamed A; Meyer, Brian; Al-Owain, Mohammad; Wakil, Salma M

Altassan, Ruqaiah; Saud, Haya Al; Masoodi, Tariq Ahmad; Dosssari, Haya Al; Khalifa, Ola; Al-Zaidan, Hamad; Sakati, Nadia; Rhabeeni, Zuhair; Al-Hassnan, Zuhair; Binamer, Yousef; Alhashemi, Nadia; Wade, William; Al-Zayed, Zayed; Al-Sayed, Moeen; Al-Muhaizea, Mohamed A; Meyer, Brian; Al-Owain, Mohammad; Wakil, Salma M.

Afiliação

Altassan R; Department of Medical Genetics, King Faisal Specialist Hospital and Center Hospital, Riyadh, Saudi Arabia.
Saud HA; Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.
Masoodi TA; Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.
Dosssari HA; Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.
Khalifa O; Department of Medical Genetics, King Faisal Specialist Hospital and Center Hospital, Riyadh, Saudi Arabia.
Al-Zaidan H; Department of Pediatrics, Faculty of Medicine, Ain Shams University, Cairo, Egypt.
Sakati N; Department of Medical Genetics, King Faisal Specialist Hospital and Center Hospital, Riyadh, Saudi Arabia.
Rhabeeni Z; College of Medicine, Al-Faisal University, Riyadh, Saudi Arabia.
Al-Hassnan Z; Department of Medical Genetics, King Faisal Specialist Hospital and Center Hospital, Riyadh, Saudi Arabia.
Binamer Y; Department of Medical Genetics, King Faisal Specialist Hospital and Center Hospital, Riyadh, Saudi Arabia.
Alhashemi N; Department of Medical Genetics, King Faisal Specialist Hospital and Center Hospital, Riyadh, Saudi Arabia.
Wade W; College of Medicine, Al-Faisal University, Riyadh, Saudi Arabia.
Al-Zayed Z; College of Medicine, Al-Faisal University, Riyadh, Saudi Arabia.
Al-Sayed M; Department of Dermatology, King Faisal Specialist.
Al-Muhaizea MA; Department of Pediatrics, Royal hospital, Muscat, Oman.
Meyer B; Department of Orthopedics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.
Al-Owain M; Department of Orthopedics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.
Wakil SM; Department of Medical Genetics, King Faisal Specialist Hospital and Center Hospital, Riyadh, Saudi Arabia.

Am J Med Genet A ; 173(4): 1009-1016, 2017 Apr.

Article em En | MEDLINE | ID: mdl-28328124

Assuntos

Códon sem Sentido; Exoma; Neuropatias Hereditárias Sensoriais e Autônomas/genética; Mutação de Sentido Incorreto; Neurônios/metabolismo; Receptor trkA/genética; Adolescente; Sequência de Bases; Criança; Pré-Escolar; Cromossomos Humanos Par 1; Consanguinidade; Feminino; Expressão Gênica; Genes Recessivos; Neuropatias Hereditárias Sensoriais e Autônomas/diagnóstico; Neuropatias Hereditárias Sensoriais e Autônomas/fisiopatologia; Sequenciamento de Nucleotídeos em Larga Escala; Humanos; Hipo-Hidrose/fisiopatologia; Deficiência Intelectual/fisiopatologia; Masculino; Modelos Moleculares; Fator de Crescimento Neural/genética; Fator de Crescimento Neural/metabolismo; Neurônios/patologia; Fenótipo; Ligação Proteica; Estrutura Secundária de Proteína; Receptor trkA/química; Receptor trkA/metabolismo; Arábia Saudita; Comportamento Autodestrutivo/fisiopatologia; Índice de Gravidade de Doença

Palavras-chave

ADHD-attention deficit hyperactivity disorder; CIPA-congenital insensitivity to pain with anhidrosis; HSAN-hereditary sensory and autonomic neuropathy; NGF-nerve growth factor; NTRK1-neurotrophic tyrosine kinase receptor type 1

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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Neuropatias Hereditárias Sensoriais e Autônomas / Códon sem Sentido / Mutação de Sentido Incorreto / Receptor trkA / Exoma / Neurônios Idioma: En Ano de publicação: 2017 Tipo de documento: Article

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