新生儿先天性无痛无汗症1例NTRK1基因突变家系分子遗传学分析和随访

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Abstract Objective To analyze neurotrophic tyrosine kinase receptor type 1 (NTRKl) gene mutation in a family with neonatal onset congenital insensitivity to pain with anhidrosis (CIPA) and to follow-up the neonate.Methods The male proband was born in the First Affiliated Hospital, Sun Yat-sen University in February 2018, who had a history of recurrent episodes of unexplained fever after 12 hours.Blood samples were collected from the proband and his patients.Sanger sequencing for all the exons and splicing sites of NTRK1 was performed on all samples.Follow-up of the proband was performed.Results Sanger sequencing demonstrated compound heterozygous mutations in NTRK1 for the proband.One mutation c.447_450dupTCTG (p.His151fs) was found in the proband′s father, and the other mutation c.287+2dupT was found in the proband′s mother.The proband had manifestations including fever, anhidrosis, self-mutilating behavior (biting of fingers), psychomotor retardation, and premature loss of primary teeth, growth retardation and microcephaly also were noted over the 28-month follow-up period.Conclusion The gene mutation spectrum and clinical manifestations of neonatal CIPA are expanded.

Key words： Congenital insensitivity to pain with anhidrosis Neurotrophic tyrosine kinase receptor type 1 gene Mutation

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	Articles by authors
	YU Mu-xue
	PAN Si-nian
	FENG Jia-li
	LI Shu
	HU Yi-xin

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YU Mu-xue,PAN Si-nian,FENG Jia-li, et al. Analysis of NTRK1 gene mutation in a family with neonatal congenital insensitivity to pain with anhidrosis and follow-up[J]. 中国当代医药, 2021, 28(8): 23-26.

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http://dangdaiyiyao.com/EN/ OR http://dangdaiyiyao.com/EN/Y2021/V28/I8/23

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