LZTR1-related spinal schwannomatosis and 7q11.23 duplication syndrome : A complex phenotype with dual diagnosis
© 2020 The Authors. Molecular Genetics & Genomic Medicine published by Wiley Periodicals LLC..
BACKGROUND: Dual diagnoses in genetics practice are not uncommon and patients with dual diagnosis often present with complex and challenging phenotypes. A combination of meticulous phenotyping and molecular genetic techniques are essential in solving these diagnostic odysseys.
METHODS: Clinical features and genetic workup of a patient presenting with incidental schwannomatosis.
RESULTS: A 19-year-old male presented with incidental painless schwannomatosis in the background of macrocephaly, distinctive facies, and learning disability. Comprehensive genetic testing with gene panel and chromosomal microarray led to a dual diagnosis of LZTR1-related schwannomatosis and 7q11.23 duplication syndrome.
CONCLUSION: We emphasize the need for high index of suspicion and comprehensive genetic testing in complex phenotypes. Interrogation of the interplay between the pathogenic variants in multiple genes could improve our understanding of the pathophysiologic pathways and contribute to therapeutic discoveries.
| Medienart: |
E-Artikel |
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| Erscheinungsjahr: |
2021 |
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| Erschienen: |
2021 |
| Enthalten in: |
Zur Gesamtaufnahme - volume:9 |
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| Enthalten in: |
Molecular genetics & genomic medicine - 9(2021), 1 vom: 01. Jan., Seite e1560 |
| Sprache: |
Englisch |
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| Beteiligte Personen: |
Muthusamy, Karthik [VerfasserIn] |
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| Links: |
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| Themen: |
7q11.23 duplication syndrome |
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| Anmerkungen: |
Date Completed 02.08.2021 Date Revised 02.08.2021 published: Print-Electronic Citation Status MEDLINE |
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| doi: |
10.1002/mgg3.1560 |
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| funding: |
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| Förderinstitution / Projekttitel: |
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| PPN (Katalog-ID): |
NLM318356902 |
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| 500 | |a Date Revised 02.08.2021 | ||
| 500 | |a published: Print-Electronic | ||
| 500 | |a Citation Status MEDLINE | ||
| 520 | |a © 2020 The Authors. Molecular Genetics & Genomic Medicine published by Wiley Periodicals LLC. | ||
| 520 | |a BACKGROUND: Dual diagnoses in genetics practice are not uncommon and patients with dual diagnosis often present with complex and challenging phenotypes. A combination of meticulous phenotyping and molecular genetic techniques are essential in solving these diagnostic odysseys | ||
| 520 | |a METHODS: Clinical features and genetic workup of a patient presenting with incidental schwannomatosis | ||
| 520 | |a RESULTS: A 19-year-old male presented with incidental painless schwannomatosis in the background of macrocephaly, distinctive facies, and learning disability. Comprehensive genetic testing with gene panel and chromosomal microarray led to a dual diagnosis of LZTR1-related schwannomatosis and 7q11.23 duplication syndrome | ||
| 520 | |a CONCLUSION: We emphasize the need for high index of suspicion and comprehensive genetic testing in complex phenotypes. Interrogation of the interplay between the pathogenic variants in multiple genes could improve our understanding of the pathophysiologic pathways and contribute to therapeutic discoveries | ||
| 650 | 4 | |a Case Reports | |
| 650 | 4 | |a Journal Article | |
| 650 | 4 | |a LZRT1 | |
| 650 | 4 | |a 7q11.23 duplication syndrome | |
| 650 | 4 | |a Schwannomatosis | |
| 650 | 4 | |a dual diagnoses | |
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| 700 | 1 | |a Bendok, Bernard R |e verfasserin |4 aut | |
| 700 | 1 | |a Dhamija, Radhika |e verfasserin |4 aut | |
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