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

Status

Recruiting

Phases

Unknown

Study type

Observational

Source

TCTR

Registry ID

TCTR20220706007

Enrollment

Registered

2022-07-06

Start date

2021-06-01

Completion date

Unknown

Last updated

2026-08-03

For informational purposes only — not medical advice. Sourced from public registries and may not reflect the latest updates. Terms

Conditions

neurofibromatosis type 1 whole exome sequencing neurofibromatosis type 1 NF1 whole exome sequencing

Interventions

NF patients who completed clinical criteria for diagnosis were enrolled. Clinical examination and blood test for whole exome sequencing were done.

Diagnostic

NF patients

Eligibility

Sex/Gender

All

Age

6 Months to No maximum

Inclusion criteria

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

Exclusion criteria: 1. Mosaic NF1 (localized NF1) 2. involuntary participants

Design outcomes

Primary

Measure	Time frame
whole exome sequencing at the beginning of study (day 1) descriptive, gene	—

Secondary

Measure	Time frame
clinical presentations cross sectional physical examination	—

Countries

Thailand

Contacts

Public ContactPawinee Rerknimitr

Faculty of Medicine, Chulalongkorn University

pawinee.r@chula.ac.th022564253

Outcome results

None listed

Source: TCTR (via WHO ICTRP) · Data processed: Aug 9, 2026