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Definition of a critical genetic interval related to kidney abnormalities in the Potocki–Lupski syndrome
Author(s) -
Goh Elaine SukYing,
Perez Irene C.,
Canales Cesar P.,
Ruiz Phillip,
Agatep Ron,
Yoon Grace,
Chitayat David,
Dror Yigal,
Shago Mary,
Goobie Sharan,
Sgro Michael,
Walz Katherina,
MendozaLondono Roberto
Publication year - 2012
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.35399
Subject(s) - gene duplication , hypotonia , phenotype , kidney , synteny , renal agenesis , medicine , genetics , biology , bioinformatics , pathology , gene , chromosome
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. © 2012 Wiley Periodicals, Inc.