DNA rearrangements on both homologues of chromosome 17 in a mildly delayed individual with a family history of autosomal dominant carpal tunnel syndrome
Article Abstract:
DNA rearrangements have been found on both chromosome 17 homologues in a mildly delayed person whose family has a history of autosomal dominant carpal tunnel syndrome. A patient with mild distal neuropathy, multifocal mononeuropathies, growth hormone deficiency, and mild mental retardation has a duplication of the Smith-Magenis syndrome (SMS) region of 17p11.2 and a deletion of the peripheral myelin protein 22 (PMP22 (ital)) gene in 17p12 on the homologous chromosome. The dup(17)(p11.2p11.2) is a de novo change. The PMP22 deletion is familial and family members with it have abnormalities that indicate carpal tunnel syndrome. The two rearrangements were likely found together because of high frequency of the abnormalities and underlying molecular characteristics of the genome in the region. Familial entrapment neuropathies, among them focal ulnar neuropathy syndrome and carpal tunnel syndrome, can be caused by PMP22 deletions.
author: Iannaccone, Susan T., Lupski, James R., Shaffer, Lisa G., Potocki, Lorraine, Chen, Ken-Shiung, Koeuth, Thearith, Killian, James, Shapira, Stuart K., Kashork, Catherine D., Spikes, Aimee S.
Publisher: University of Chicago Press
Publication Name: American Journal of Human Genetics
Subject: Biological sciences
ISSN: 0002-9297
Year: 1999
Usage, Chromosome mapping, Genetic disorders, Mental retardation, Carpal tunnel syndrome
Disruption of ROBO2 is associated with urinary tract anomalies and confers risk of vesicoureteral reflux
Article Abstract:
Vesicoureteral reflux (VUR), characterized by the reflux of urine from the bladder into the ureters and sometimes into the kidneys, is one of the most common clinical manifestations of congenital anomalies of the kidney and urinary tract (CAKUT). An examination of such cases shows that the disruption of ROBO2 proteins is associated with urinary tract anomalies and gives rise to risk of VUR.
author: Rao, Yi, Gusella, James F., Morton, Cynthia C., Eccles, Michael R., Lupski, James R., Quade, Bradley J., Bi, Weimin, Sanlaville, Damien, Maas, Richard L., Jiong Yan, Weining Lu, van Eerde, Albertien M., Xueping Fan, Quitero-Rivera, Fabiola, Kulkarni, Shashikant, Ferguson, Heather, Hyung-Goo Kim, Yanli Fan, Qiongchao Xi, Qing-Gang Li, Andrews, William, Sundaresan, Vasi, Giltay, Jacques C., de Jong, Tom P.V.M., Feather, Sally A., Woolf, Adrian S., Wijmenga, Cisa
Publisher: University of Chicago Press
Publication Name: American Journal of Human Genetics
Subject: Biological sciences
ISSN: 0002-9297
Year: 2007
Analysis, Bladder diseases, Bladder exstrophy, Congenital bladder anomalies
Disruption of diacylglycerol kinase delta (DGKD) associated with seizures in humans and mice
Article Abstract:
A report on a female patient with a de novo balanced translocation, 46,X,t(X;2)(p11.2;q37)dn is presented. The2q37 breakpoint observed in association with the seizure phenotype is studied as lies near loci implicated in epilepsy in humans and mice.
author: Harris, David J., Gusella, James F., Cole, Andrew J., Morton, Cynthia C., Leach, Natalia T., Korf, Bruce R., Quade, Bradley J., Yi Zheng, Ligon, Keith L., Maas, Richard L., Weining Lu, Yi Sun, Michaud, Sebastien, Ligon, Azra H., Sander, Thomas, Kelz, Max B.
Publisher: University of Chicago Press
Publication Name: American Journal of Human Genetics
Subject: Biological sciences
ISSN: 0002-9297
Year: 2007
Science & research, Epilepsy, Seizures (Medicine), Phosphotransferases, Report, Diacylglycerol
subjects list: Research, United States, Genetic aspects, Translocation (Genetics), Translocations (Genetics)
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