Here, we studied a cohort of seven patients with HSAN IV and describe a comprehensive functional analysis of seven novel NTRK1 missense mutations, c.1550G &gt;A, c.1565G &gt;A, c.1970T &gt;C, c.2096T &gt;C, c.2254T &gt;A, c.2288G &gt;C, and c.2311C &gt;T, corresponding to p.G517E, p.G522E, p.L657P, p.I699T, p.C752S, p.C763S, and p.R771C, all of which were predicted pathogenic by in silico analysis.
C0020074
HSAN Type IV