Oral and craniofacial manifestations and two novel missense mutations of the NTRK1 gene identified in the patient with congenital insensitivity to pain with anhidrosis
| Autor: | Hao Guo, Xin Liu, Kewen Wei, Kun Xuan, Yudi Bai, Shufang Ma, Li Gao, Ping Yu, Yan Jin, Ling-Ying Wen, Nan Ye, Yang Xue |
|---|---|
| Jazyk: | angličtina |
| Rok vydání: | 2013 |
| Předmět: |
Male
Pathology Anatomy and Physiology Heredity Craniofacial abnormality DNA Mutational Analysis lcsh:Medicine Developmental and Pediatric Neurology Tropomyosin receptor kinase A Compound heterozygosity Pediatrics Craniofacial Abnormalities Loss of heterozygosity Congenital insensitivity to pain with anhidrosis Morphogenesis Missense mutation Hereditary Sensory and Autonomic Neuropathies Child lcsh:Science Conserved Sequence Neuropathology Facial Nerve Disorders Multidisciplinary Hypoplasia Pedigree Neurology Medicine Research Article medicine.medical_specialty Clinical Pathology Genotypes Oral Medicine Mutation Missense Neurophysiology Biology Neurological System Disorders of Other Cranial Nerves Molecular Genetics Developmental Neuroscience Genetic Mutation Diagnostic Medicine Peripheral Nervous System Genetics medicine Humans Abnormalities Multiple Amino Acid Sequence Birth Defects Receptor trkA Craniofacial Clinical Genetics Base Sequence Tooth Abnormalities lcsh:R Human Genetics medicine.disease Anatomical Pathology Genetics of Disease lcsh:Q Developmental Biology Neuroscience |
| Zdroj: | PLoS ONE, Vol 8, Iss 6, p e66863 (2013) PLoS ONE |
| ISSN: | 1932-6203 |
| Popis: | Congenital insensitivity to pain with anhidrosis (CIPA) is a rare inherited disorder of the peripheral nervous system resulting from mutations in neurotrophic tyrosine kinase receptor 1 gene (NTRK1), which encodes the high-affinity nerve growth factor receptor TRKA. Here, we investigated the oral and craniofacial manifestations of a Chinese patient affected by autosomal-recessive CIPA and identified compound heterozygosity in the NTRK1 gene. The affected boy has multisystemic disorder with lack of reaction to pain stimuli accompanied by self-mutilation behavior, the inability to sweat leading to defective thermoregulation, and mental retardation. Oral and craniofacial manifestations included a large number of missing teeth, nasal malformation, submucous cleft palate, severe soft tissue injuries, dental caries and malocclusion. Histopathological evaluation of the skin sample revealed severe peripheral nerve fiber loss as well as mild loss and absent innervation of sweat glands. Ultrastructural and morphometric studies of a shed tooth revealed dental abnormalities, including hypomineralization, dentin hypoplasia, cementogenesis defects and a dysplastic periodontal ligament. Genetic analysis revealed a compound heterozygosity- c.1561T>C and c.2057G>A in the NTRK1 gene. This report extends the spectrum of NTRK1 mutations observed in patients diagnosed with CIPA and provides additional insight for clinical and molecular diagnosis. |
| Databáze: | OpenAIRE |
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