Åland Island eye disease (Forsius‐Eriksson ocular albinism) and an Xp21 deletion in a patient with duchenne muscular dystrophy, glycerol kinase deficiency, and congenital adrenal hypoplasia

Pillers, De Ann M.; Weleber, Richard G.; Powell, Berkley R.; Hanna, Cheryl E.; Magenis, R. Ellen; Buist, Neil R. M.

doi:10.1002/ajmg.1320360106

Cited by 27 publications

(7 citation statements)

References 22 publications

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“…Deletion of Xp21 may cause Glycerol Kinase Deficiency, Aland Island eye disease, mental retardation, Duchenne muscular dystrophy, etc. [Baranzini et al, 1997;Fries et al, 1993;Pillers et al, 1990]. SNP rs619 is also within a region in which Zhang et al [2005] reported linkage to ALDX1 (P-value 5 0.004) using the same data set.…”

Section: Discussionmentioning

confidence: 88%

Family‐based association tests for ordinal traits adjusting for covariates

Wang¹,

Ye²,

Zhang³

2006

Genetic Epidemiology

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We present a class of family-based association tests (FBATs) for ordinal traits that adjust for the effects of covariates. For complex diseases, especially mental health conditions including nicotine dependence and substance use, the outcome variables are often recorded in an ordinal rather than quantitative scale. The naturally recorded ordinal traits are commonly analyzed either as quantitative traits or are dichotomized. It has been demonstrated repeatedly in recent studies that these commonly used approaches to dealing with ordinal traits are inadequate and result in loss of power. In this report, we make use of conditional likelihood to derive score test statistics that belong to a general class of FBATs. We conducted simulation studies to compare the type I error and power of our proposed test with existing tests. The empirical result suggests that our test produces reasonable type I errors and has power far exceeding (often doubling) those of existing tests. We applied our proposed test to a data set on alcohol dependence and found that six single nucleotide polymorphisms (SNPs) are significantly associated (P-values < or =0.001) with alcohol dependence after adjusting for gender and age. Three of the SNPs (rs619, rs1972373, and rs1571423) or their tightly linked regions have been suggested in the literature from the analysis of the same data, demonstrating the consistent findings between various methods. The other three SNPs (rs485874, rs718251, and rs1869907) are identified for the first time using this data set, underscoring the potential power of our proposed test.

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Section: Discussionmentioning

confidence: 88%

Family‐based association tests for ordinal traits adjusting for covariates

Wang¹,

Ye²,

Zhang³

2006

Genetic Epidemiology

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“…Abnormal retinal function may occur as a result of injury, illness, or iatrogenic causes, such as drug exposure. Our interest and expertise in the ERG has been in its usefulness in diagnosing inherited retinal defects [1][2][3].…”

Section: Introductionmentioning

confidence: 99%

Isoflurane is an effective alternative to ketamine/xylazine/acepromazine as an anesthetic agent for the mouse electroretinogram

et al. 2007

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The electroretinogram (ERG) is an essential measure of retinal function for studying mouse models of retinal disease. Ketamine, in combination with xylazine and/or acepromazine, is the most commonly used anesthetic agent. Although it works well in most situations, some fragile mouse strains have high mortality rates with this ketamine cocktail. We compared isoflurane with the ketamine cocktail in a longitudinal study of light-adapted and dark-adapted ERGs in C57BL/6J mice. Waveforms were averaged, oscillatory potentials (OPs) were extracted by digital filtration, and key ERG parameters were analyzed. The ERG waveforms were qualitatively similar with both anesthetics, and the male and female ERG parameters did not show significant differences. For light-adapted ERGs, b-wave amplitude and implicit time, and wavelet index were decreased under isoflurane anesthesia, whereas for dark-adapted ERGs, a- and b-wave implicit times were decreased and wavelet index was increased. The dark-adapted b-wave amplitude showed a significant inverse correlation with animal weight and age. Rod phototransduction gain and the Naka-Rushton n and R (max) parameters were the same for both anesthetics, and only the Naka-Rushton log k parameter was significantly elevated for isoflurane anesthesia. We propose that isoflurane is a satisfactory alternative to the ketamine cocktail for anesthesia in the mouse ERG. Precise quantitative comparisons, however, should only employ study designs using isoflurane versus isoflurane, or ketamine versus ketamine. Moreover, in light of the effects of both isoflurane and the ketamine cocktail on blood glucose levels, it would be prudent to control the fasting state of the animals in quantitative ERG studies.

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“…The possibility exists that OA2, congenital stationary night blindness, and retinitis pigmentosa are allelic. There is a discrepancy between mapping of OA2 to Xpl 1.3 and the finding that a patient with the clinical characteristics of OA2 and Duchenne muscular dystrophy carries a deletion of 66 This finding would support the presence of an additional locus on the X chromosome for ocular albinism that closely resembles OA2.…”

Section: Colour Blindness Protan and Deutan Seriesmentioning

confidence: 90%