Co-occurrence of neurofibromatosis type 1 and pseudoachondroplasia - a first case report.
Cartilage oligomeric matrix protein
Case report
Neurofibromatosis 1
Neurofibromin 1
Pseudoachondroplasia
Journal
BMC pediatrics
ISSN: 1471-2431
Titre abrégé: BMC Pediatr
Pays: England
ID NLM: 100967804
Informations de publication
Date de publication:
08 03 2023
08 03 2023
Historique:
received:
30
12
2021
accepted:
17
02
2023
entrez:
8
3
2023
pubmed:
9
3
2023
medline:
11
3
2023
Statut:
epublish
Résumé
Neurofibromatosis type 1 and pseudoachondroplasia are both rare autosomal dominant disorders, caused by pathogenic mutations in NF1 and COMP genes, respectively. Both neurofibromin 1 and cartilage oligomeric matrix protein (COMP) play a role in the development of the skeleton. Carrying both germline mutations has not been previously reported; however, it can affect the developing phenotype. The index patient, an 8-year-old female presented with several skeletal and dermatologic anomalies resembling the coexistence of multiple syndromes. Her mother had dermatologic symptoms characteristic for neurofibromatosis type 1, and her father presented with distinct skeletal anomalies. NGS-based analysis revealed a heterozygous pathogenic mutation in genes NF1 and COMP in the index patient. A previously unreported heterozygous variant was detected for the NF1 gene. The sequencing of the COMP gene revealed a previously reported, pathogenic heterozygous variant that is responsible for the development of the pseudoachondroplasia phenotype. Here, we present the case of a young female carrying pathogenic NF1 and COMP mutations, diagnosed with two distinct heritable disorders, neurofibromatosis type 1 and pseudoachondroplasia. The coincidence of two monogenic autosomal dominant disorders is rare and can pose a differential diagnostic challenge. To the best of our knowledge, this is the first reported co-occurrence of these syndromes.
Sections du résumé
BACKGROUND
Neurofibromatosis type 1 and pseudoachondroplasia are both rare autosomal dominant disorders, caused by pathogenic mutations in NF1 and COMP genes, respectively. Both neurofibromin 1 and cartilage oligomeric matrix protein (COMP) play a role in the development of the skeleton. Carrying both germline mutations has not been previously reported; however, it can affect the developing phenotype.
CASE PRESENTATION
The index patient, an 8-year-old female presented with several skeletal and dermatologic anomalies resembling the coexistence of multiple syndromes. Her mother had dermatologic symptoms characteristic for neurofibromatosis type 1, and her father presented with distinct skeletal anomalies. NGS-based analysis revealed a heterozygous pathogenic mutation in genes NF1 and COMP in the index patient. A previously unreported heterozygous variant was detected for the NF1 gene. The sequencing of the COMP gene revealed a previously reported, pathogenic heterozygous variant that is responsible for the development of the pseudoachondroplasia phenotype.
CONCLUSIONS
Here, we present the case of a young female carrying pathogenic NF1 and COMP mutations, diagnosed with two distinct heritable disorders, neurofibromatosis type 1 and pseudoachondroplasia. The coincidence of two monogenic autosomal dominant disorders is rare and can pose a differential diagnostic challenge. To the best of our knowledge, this is the first reported co-occurrence of these syndromes.
Identifiants
pubmed: 36890482
doi: 10.1186/s12887-023-03920-7
pii: 10.1186/s12887-023-03920-7
pmc: PMC9993747
doi:
Types de publication
Case Reports
Journal Article
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Pagination
110Subventions
Organisme : Nemzeti Kutatási Fejlesztési és Innovációs Hivatal
ID : FK_131916, 2019
Organisme : Nemzeti Kutatási Fejlesztési és Innovációs Hivatal
ID : NKFIH-871-3/2020
Organisme : Nemzeti Kutatási Fejlesztési és Innovációs Hivatal
ID : EFOP- 3.6.3-VEKOP-16-2017-00009
Organisme : Nemzeti Kutatási Fejlesztési és Innovációs Hivatal
ID : ÚNKP-20-3-I-SE-24
Informations de copyright
© 2023. The Author(s).
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