期刊论文详细信息
Molecular Genetics & Genomic Medicine
LZTR1‐related spinal schwannomatosis and 7q11.23 duplication syndrome: A complex phenotype with dual diagnosis
Karthik Muthusamy1  Bernard R. Bendok2  Radhika Dhamija3  Maciej M. Mrugala3 
[1] Department of Clinical Genomics Mayo Clinic Rochester MN USA;Department of Neurologic Surgery Mayo Clinic Phoenix AZ USA;Department of Neurology Mayo Clinic Phoenix AZ USA;
关键词: 7q11.23 duplication syndrome;    dual diagnoses;    LZRT1;    pain;    Schwannomatosis;   
DOI  :  10.1002/mgg3.1560
来源: DOAJ
【 摘 要 】

Abstract 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.

【 授权许可】

Unknown   

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