期刊
EUROPEAN JOURNAL OF MEDICAL GENETICS
卷 63, 期 1, 页码 -出版社
ELSEVIER
DOI: 10.1016/j.ejmg.2019.01.003
关键词
CIPA; HSAN-IV; Charcot joints; Heterotopic ossifications; Novel NTRK1 gene mutation
资金
- International Centre for Genetic Engineering and Biotechnology (ICGEB), Trieste, Italy [CRP/MAC13-01]
Congenital insensitivity to pain with anhidrosis (CIPA), also known as hereditary sensory and autonomic neuropathy type IV (HSAN-IV), is a rare and severe autosomal recessive disorder. We report on an adult female patient whose clinical findings during childhood were not recognized as CIPA. There was neither complete anhidrosis nor a recognizable sensitivity to heat. Tumorlike swellings of many joints and skeletal signs of Charcot neuropathy developed in adolescence which, together with a history of self-mutilation, led to a clinical suspicion of CIPA confirmed by identification of a novel homozygous variant c.1795G > T in the NTRK1 gene in blood lymphocytes. Both parents were heterozygous for the mutation. The variant predicts a premature stop codon (p.Gly599Ter) and thus represents a pathogenic variant; the first reported in the Southeastern European population.
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