Definition of a critical genetic interval related to kidney abnormalities in the Potocki-Lupski syndrome.
Potocki-Lupski syndrome is a genomic disorder caused by duplication of 17p11.2. It is characterized by failure to thrive, intellectual disability, hypotonia, and behavioral difficulties. Structural renal anomalies have been observed in <10% of affected individuals. We present detailed clinical and molecular data on six patients with Potocki-Lupski syndrome, two of whom had renal abnormalities, and investigate the prevalence of kidney abnormalities in the mouse model for the syndrome. In contrast to affected humans, the mouse model does not demonstrate a renal phenotype. Comparison of the duplicated segment in patients with Potocki-Lupski syndrome and the renal phenotype and the syntenic duplicated region in the mouse model allowed us to suggest a 0.285 Mb critical region, including the FLCN gene that may be important for development of renal abnormalities in patients with this duplication.
Division of Clinical and Metabolic Genetics, The Hospital for Sick Children and University of Toronto, Toronto, Ontario, Canada.
Elaine Suk-Ying
ES
Goh
Irene C
IC
Perez
Cesar P
CP
Canales
Phillip
P
Ruiz
Ron
R
Agatep
Grace
G
Yoon
David
D
Chitayat
Yigal
Y
Dror
Mary
M
Shago
Sharan
S
Goobie
Michael
M
Sgro
Katherina
K
Walz
Roberto
R
Mendoza-Londono
D000015:Abnormalities, Multiple; D000293:Adolescent; D000818:Animals; D002648:Child; D002675:Child, Preschool; D002871:Chromosome Banding; D025063:Chromosome Disorders; D058674:Chromosome Duplication; D002874:Chromosome Mapping; D002886:Chromosomes, Human, Pair 17; D004195:Disease Models, Animal; D005260:Female; D020440:Gene Duplication; D006801:Humans; D007223:Infant; D007668:Kidney / Q000002:abnormalities* / Q000473:pathology; D008297:Male; D051379:Mice; D010641:Phenotype; D058496:Smith-Magenis Syndrome / Q000150:complications / Q000235:genetics*; D014551:Urinary Tract / Q000002:abnormalities