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Case Report for Two Siblings Carrying Neurofibromatosis Type 1 with a Rare NF1: c.5392C>T Mutation

Balkan Journal of Medical Genetics
Volume 24 (2021): Issue 2 (November 2021)
By:
Open Access
|Jun 2022

Figures & Tables

Figure 1

Dermatologic findings of patient 1. a) Numerous light brown colored patches-café au lait spots (thin arrows) on the back of the patient along with soft papules (bold arrow). b) Axillary freckling with an axillary café au lait macule. c) Close-up view of soft subcutaneous papules with a bluish hue (bold arrows).
Dermatologic findings of patient 1. a) Numerous light brown colored patches-café au lait spots (thin arrows) on the back of the patient along with soft papules (bold arrow). b) Axillary freckling with an axillary café au lait macule. c) Close-up view of soft subcutaneous papules with a bluish hue (bold arrows).

Figure 2

Dermatologic findings of patient 2. a, b) Numerous café au lait spots on the trunk and proximal part of the patient's thigh (black arrows), brown-colored soft plaques covered with terminal hair on the patient's left arm (white arrows). c) Close-up view of the arms showing hypertrichosis on the left arm.
Dermatologic findings of patient 2. a, b) Numerous café au lait spots on the trunk and proximal part of the patient's thigh (black arrows), brown-colored soft plaques covered with terminal hair on the patient's left arm (white arrows). c) Close-up view of the arms showing hypertrichosis on the left arm.

Figure 3

Pedigree of the family, affected family members are indicated as black circles. Mutation analysis was performed only for III-6 and III-7 (proband).
Pedigree of the family, affected family members are indicated as black circles. Mutation analysis was performed only for III-6 and III-7 (proband).

Figure 4

Electropherogram of the Sanger sequencing confirmed the mutation c.5392C>T, p.Gln1798Ter in exon 38 of the NF1 gene. The arrow indicates the position of the c.5392C>T mutation. The proband and his eldest sister were heterozygotes.
Electropherogram of the Sanger sequencing confirmed the mutation c.5392C>T, p.Gln1798Ter in exon 38 of the NF1 gene. The arrow indicates the position of the c.5392C>T mutation. The proband and his eldest sister were heterozygotes.
DOI: https://doi.org/10.2478/bjmg-2021-0021 | Journal eISSN: 2199-5761
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Language: English
Page range: 99 - 102
Published on: Jun 5, 2022
Published by: Macedonian Academy of Sciences and Arts
In partnership with: Paradigm Publishing Services
Publication frequency: 2 issues per year
Keywords:
Familial,
Mutation,
Neurofibromatosis type 1 (NF1)
Related subjects:
Medicine,
Basic medical science,
Basic medical science, other

© 2022 DB Sayın Kocakap, Ö Gündüz, L Özer, M Durak, published by Macedonian Academy of Sciences and Arts
This work is licensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 License.

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