Three cases of Troyer syndrome in two families of Filipino descent.
Troyer syndrome is a complex hereditary spastic paraplegia (HSP) due to a mutation in SPG20 first reported in the Old Amish population. A genetic mutation in SPG20 is responsible for a loss of function of the protein spartin in this disease. Since its initial report, this syndrome has also been reported in Turkish and Omani families. Here we report the case of three patients of Filipino descent with Troyer syndrome. Whole exome sequencing (WES) identified a homozygous mutation c.364_365delAT which predicts p.Met122Valfs*2 in SPG20. This is the same mutation identified in affected patients from the Omani and Turkish families, and is the first report of this syndrome in the Filipino population. Although Troyer syndrome has characteristic phenotypic manifestations it is likely underdiagnosed due to its rarity and we expect that WES will lead to identifying this disease in other individuals. © 2016 Wiley Periodicals, Inc.
Department of Pediatrics, San Antonio Military Medical Center, JBSA Ft Sam Houston, Texas.
Shauna
S
Butler
Division of Clinical Genomics, Ambry Genetics, Aliso Viejo, California.
Katherine L
KL
Helbig
Division of Clinical Genomics, Ambry Genetics, Aliso Viejo, California.
Wendy
W
Alcaraz
Department of Pediatrics, University of Hawai'i John A. Burns School of Medicine and Kapi'olani Medical Specialists, Honolulu, Hawaii.
Laurie H
LH
Seaver
Department of Pediatrics, San Antonio Military Medical Center, JBSA Ft Sam Houston, Texas.
David T
DT
Hsieh
Department of Pediatrics, San Antonio Military Medical Center, JBSA Ft Sam Houston, Texas.
Luis
L
Rohena
D018797:Cell Cycle Proteins; D002648:Child; D059472:Exome / Q000235:genetics; D005260:Female; D006801:Humans; D008297:Male; D009154:Mutation; D011506:Proteins / Q000235:genetics*; D015419:Spastic Paraplegia, Hereditary / Q000453:epidemiology / Q000235:genetics* / Q000503:physiopathology
D018797:Cell Cycle Proteins; D011506:Proteins; C464787:SPART protein, human
SPG20; Troyer syndrome; hereditary spastic paraplegia; spartin