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.

Affiliation

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 in En | MEDLINE | ID: mdl-28328124

Subject(s)

Codon, Nonsense; Exome; Hereditary Sensory and Autonomic Neuropathies/genetics; Mutation, Missense; Neurons/metabolism; Receptor, trkA/genetics; Adolescent; Base Sequence; Child; Child, Preschool; Chromosomes, Human, Pair 1; Consanguinity; Female; Gene Expression; Genes, Recessive; Hereditary Sensory and Autonomic Neuropathies/diagnosis; Hereditary Sensory and Autonomic Neuropathies/physiopathology; High-Throughput Nucleotide Sequencing; Humans; Hypohidrosis/physiopathology; Intellectual Disability/physiopathology; Male; Models, Molecular; Nerve Growth Factor/genetics; Nerve Growth Factor/metabolism; Neurons/pathology; Phenotype; Protein Binding; Protein Structure, Secondary; Receptor, trkA/chemistry; Receptor, trkA/metabolism; Saudi Arabia; Self-Injurious Behavior/physiopathology; Severity of Illness Index

Key words

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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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Hereditary Sensory and Autonomic Neuropathies / Codon, Nonsense / Mutation, Missense / Receptor, trkA / Exome / Neurons Type of study: Diagnostic_studies / Prognostic_studies Limits: Adolescent / Child / Child, preschool / Female / Humans / Male Country/Region as subject: Asia Language: En Journal: Am J Med Genet A Journal subject: GENETICA MEDICA Year: 2017 Document type: Article Affiliation country: Saudi Arabia Country of publication: United States

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