14-12-2025
جامعة الملك عبدالعزيز
KING ABDULAZIZ UNIVERSITY
Center of Excellence In Genomic Medicine Research
Document Details
Document Type
:
Article In Journal
Document Title
:
Congenital insensitivity to pain with anhidrosis: A report of two siblings with a novel mutation in (TrkA) NTRK1 gene in a Saudi family
Congenital insensitivity to pain with anhidrosis: A report of two siblings with a novel mutation in (TrkA) NTRK1 gene in a Saudi family
Document Language
:
English
Abstract
:
Congenital insensitivity to painwith anhidrosis (CIPA) or hereditary sensory and autonomic neuropathy type IV (HSAN type IV) is an extremely rare autosomal recessive disorder with an estimated incidence of 1 in 25,000. It was first described in 1963, and since then several case reports and review articles have been published. In this article, we report two brothers with clinical features of CIPA, who presented with recurrent episodes of hyperthermia, anhidrosis, profound loss of pain sensitivity, and unconscious self-mutilation of fingers, lip and tongue. Sanger sequencing analysis confirmed the presence of a novel mutation c.783_785delGAA in the NTRK1 gene in the two affected members of the family. Early diagnosis and management of different systemic complications including orthopedic, visual, and dental may be useful in the reduction of frequency and severity of these complications.
ISSN
:
0022-510X
Journal Name
:
NTRK1 CIPA HSAN type IV Autosomal recessive disorder Saudi family
Volume
:
370
Issue Number
:
1
Publishing Year
:
1437 AH
2016 AD
Article Type
:
Article
Added Date
:
Thursday, July 20, 2017
Researchers
Researcher Name (Arabic)
Researcher Name (English)
Researcher Type
Dr Grade
Email
Hussein Algahtani
Algahtani, Hussein
Researcher
Doctorate
Muhammad Imran Naseer
Naseer, Muhammad Imran
Researcher
Doctorate
Mohammad Al-Qahtani
Al-Qahtani, Mohammad
Researcher
Doctorate
Shireen Abubakr Abdulrahman
Abdulrahman, Shireen Abubakr
Researcher
Doctorate
Faisal Boker
Boker, Faisal
Researcher
Doctorate
Bader Shirah
Shirah, Bader
Researcher
Doctorate
Files
File Name
Type
Description
42138.pdf
pdf
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