Open AccessLZTR1 ‐related spinal schwannomatosis and 7q11.23 duplication syndrome: A complex phenotype with dual diagnosis
Author(s) -
Muthusamy Karthik,
Mrugala Maciej M.,
Bendok Bernard R.,
Dhamija Radhika
Publication year - 2021
Publication title -
molecular genetics and genomic medicine
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.765
H-Index - 29
ISSN - 2324-9269
DOI - 10.1002/mgg3.1560
Subject(s) - macrocephaly , gene duplication , medicine , genetic testing , phenotype , dual diagnosis , microarray , medical diagnosis , bioinformatics , pathology , genetics , gene , biology , psychiatry , gene expression , substance use
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.