TY - JOUR
T1 - Definition of a critical genetic interval related to kidney abnormalities in the Potocki-Lupski syndrome
AU - Goh, Elaine Suk Ying
AU - Perez, Irene C.
AU - Canales, Cesar P.
AU - Ruiz, Phillip
AU - Agatep, Ron
AU - Yoon, Grace
AU - Chitayat, David
AU - Dror, Yigal
AU - Shago, Mary
AU - Goobie, Sharan
AU - Sgro, Michael
AU - Walz, Katherina
AU - Mendoza-Londono, Roberto
PY - 2012/7
Y1 - 2012/7
N2 - 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 0.285Mb critical region, including the FLCN gene that may be important for development of renal abnormalities in patients with this duplication.
AB - 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 0.285Mb critical region, including the FLCN gene that may be important for development of renal abnormalities in patients with this duplication.
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U2 - 10.1002/ajmg.a.35399
DO - 10.1002/ajmg.a.35399
M3 - Article
C2 - 22639462
AN - SCOPUS:84862698780
SN - 1552-4825
VL - 158 A
SP - 1579
EP - 1588
JO - American Journal of Medical Genetics, Part A
JF - American Journal of Medical Genetics, Part A
IS - 7
ER -