American journal of medical genetics. Part A
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Am. J. Med. Genet. A · Nov 2009
ReviewThe genetics of sleep disorders in humans: narcolepsy, restless legs syndrome, and obstructive sleep apnea syndrome.
Sleep disorders are a group of neurological disorders known to cause public health problems associated with interference with daily activities including cognitive problems, poor job performance and reduced productivity. There is strong evidence emerging for the presence of genes influencing sleep disorders, such as narcolepsy (NRCLP), restless legs syndrome (RLS), and obstructive sleep apnea syndrome (OSAS). NRCLP is typically characterized by excessive daytime sleepiness, cataplexy, sleep paralysis and hallucinations. ⋯ OSAS is major sleep problem characterized by recurrent episodes of upper airway collapse and obstruction during sleep. In the recent years, many research groups have attempted to identify the susceptibility and candidate genes for NRCLP, RLS, and OSAS through the sequential analyses of genetic linkage and association. The purpose of this review is to summarize some of remarkable molecular advances in sleep and sleep disorders, thereby providing a greater understanding of the complex sleep processes, and a platform for future therapeutic interventions.
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Am. J. Med. Genet. A · Nov 2009
Array-based comparative genomic hybridization (aCGH) in the genetic evaluation of stillbirth.
This study examined the utility of array-based comparative genomic hybridization (aCGH) in detecting genetic abnormalities associated with late pregnancy loss. Comparisons were made with classic cytogenetics to test whether aCGH represents a superior methodology for the clinical evaluation of stillbirth. ⋯ Among 15 tested stillborns, aCGH detected two abnormalities (trisomy 21 and an unbalanced translocation between chromosomes 3 and 10), for an overall detection rate of 13% in stillborns with malformations who had normal or unobtainable cytogenetic results. This preliminary study supports the clinical value of aCGH testing in diagnostic evaluation of stillborns with congenital anomalies.