Association between cutaneous manifestations and mutation gene by whole exome sequencing technique among neurofibromatosis type 1 patients

Recruiting

• Conditions: neurofibromatosis type 1whole exome sequencing; neurofibromatosis type 1; NF1; whole exome sequencing

• Registration Number: TCTR20220706007
• Lead Sponsor: Health Systems Research Institute

Brief Summary

Not available

Detailed Description

Not available

Study Timeline

• Study Start: 2022-07-06
• Study Completion: 2022-08-31
• Last Update Posted: 19 August 2024

Recruitment & Eligibility

• Status: Recruiting
• Sex: All
• Target Recruitment: 40

Inclusion Criteria

Clinical diagnosis based on presence of two of the following:
-Six or more cafe-au-lait macules over 5 mm in diameter in prepubertal individuals and over 15mm in greatest diameter in postpubertal individuals.
-Two or more neurofibromas of any type or one plexiform neurofibroma.
Two or more Lisch nodules (iris hamartomas).
-Freckling in the axillary or inguinal regions.
-Optic glioma.
-A distinctive osseous lesion such as sphenoid dysplasia or thinning of long bone cortex, with or without pseudoarthrosis.
-First-degree relative (parent, sibling, or offspring) with NF1 by the above criteria

Exclusion Criteria

1. Mosaic NF1 (localized NF1)
2. involuntary participants

Study & Design

• Study Type: Observational
• Study Design: Not specified

Primary Outcome Measures

Name	Time	Method
whole exome sequencing at the beginning of study (day 1) descriptive, gene

Secondary Outcome Measures

Name	Time	Method
clinical presentations cross sectional physical examination