4.4 Article

LZTR1-related spinal schwannomatosis and 7q11.23 duplication syndrome: A complex phenotype with dual diagnosis

Journal

MOLECULAR GENETICS & GENOMIC MEDICINE
Volume 9, Issue 1, Pages -

Publisher

WILEY
DOI: 10.1002/mgg3.1560

Keywords

7q11.23 duplication syndrome; dual diagnoses; LZRT1; pain; Schwannomatosis

Ask authors/readers for more resources

This study highlights the importance of having a high index of suspicion and conducting comprehensive genetic testing in complex phenotypes. Examining the interplay between pathogenic variants in multiple genes could enhance our understanding of pathophysiological pathways and contribute to therapeutic discoveries.
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.

Authors

I am an author on this paper
Click your name to claim this paper and add it to your profile.

Reviews

Primary Rating

4.4
Not enough ratings

Secondary Ratings

Novelty
-
Significance
-
Scientific rigor
-
Rate this paper

Recommended

No Data Available
No Data Available