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Dive into the research topics where Joanne Mackey is active.

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Featured researches published by Joanne Mackey.


Genetics in Medicine | 2006

Pompe disease diagnosis and management guideline

Priya S. Kishnani; Robert D. Steiner; Deeksha Bali; Kenneth I. Berger; Barry J. Byrne; Laura E. Case; John F. Crowley; Steven Downs; R. Rodney Howell; Richard M. Kravitz; Joanne Mackey; Deborah Marsden; Anna Maria Martins; David S. Millington; Marc Nicolino; Gwen O’Grady; Marc C. Patterson; David M. Rapoport; Alfred E. Slonim; Carolyn T. Spencer; Cynthia J. Tifft; Michael S. Watson

Disclaimer: ACMG standards and guidelines are designed primarily as an educational resource for physicians and other health care providers to help them provide quality medical genetic services. Adherence to these standards and guidelines does not necessarily ensure a successful medical outcome. These standards and guidelines should not be considered inclusive of all proper procedures and tests or exclusive of other procedures and tests that are reasonably directed to obtaining the same results. In determining the propriety of any specific procedure or test, the geneticist should apply his or her own professional judgment to the specific clinical circumstances presented by the individual patient or specimen. It may be prudent, however, to document in the patient’s record the rationale for any significant deviation from these standards and guidelines.


Environmental Health Perspectives | 2006

Neural tube defects and folate pathway genes : Family-based association tests of gene-gene and gene-environment interactions

Abee L. Boyles; Ashley V. Billups; Kristen L. Deak; Deborah G. Siegel; Lorraine Mehltretter; Susan Slifer; Alexander G. Bassuk; John A. Kessler; Michael C. Reed; H. Frederik Nijhout; Timothy M. George; David S. Enterline; John R. Gilbert; Marcy C. Speer; Joanna Aben; A. Alysworth; Joann Bodurtha; Timothy Brei; Connie Buran; Bermans J. Iskandar; Joy Ito; Nicole Lasarsky; Philip Mack; Elli Meeropol; Joanne Mackey; David G. McLone; W. J. Oakes; Cynthia M. Powell; Kathleen Sawin; Michael Walker

Background Folate metabolism pathway genes have been examined for association with neural tube defects (NTDs) because folic acid supplementation reduces the risk of this debilitating birth defect. Most studies addressed these genes individually, often with different populations providing conflicting results. Objectives Our study evaluates several folate pathway genes for association with human NTDs, incorporating an environmental cofactor: maternal folate supplementation. Methods In 304 Caucasian American NTD families with myelomeningocele or anencephaly, we examined 28 polymorphisms in 11 genes: folate receptor 1, folate receptor 2, solute carrier family 19 member 1, transcobalamin II, methylenetetrahydrofolate dehydrogenase 1, serine hydroxymethyl-transferase 1, 5,10-methylenetetrahydrofolate reductase (MTHFR), 5-methyltetrahydrofolate-homo-cysteine methyltransferase, 5-methyltetrahydrofolate-homocysteine methyltransferase reductase, betaine-homocysteine methyltransferase (BHMT), and cystathionine-beta-synthase. Results Only single nucleotide polymorphisms (SNPs) in BHMT were significantly associated in the overall data set; this significance was strongest when mothers took folate-containing nutritional supplements before conception. The BHMT SNP rs3733890 was more significant when the data were stratified by preferential transmission of the MTHFR rs1801133 thermolabile T allele from parent to offspring. Other SNPs in folate pathway genes were marginally significant in some analyses when stratified by maternal supplementation, MTHFR, or BHMT allele transmission. Conclusions BHMT rs3733890 is significantly associated in our data set, whereas MTHFR rs1801133 is not a major risk factor. Further investigation of folate and methionine cycle genes will require extensive SNP genotyping and/or resequencing to identify novel variants, inclusion of environmental factors, and investigation of gene–gene interactions in large data sets.


Pediatric Neurosurgery | 2000

Genetic studies in neural tube defects

Elizabeth C. Melvin; Timothy M. George; Gordon Worley; Amy Franklin; Joanne Mackey; Kristi D. Viles; Nishu Shah; Courtney R. Drake; David S. Enterline; David G. McLone; Jeffrey S. Nye; W. Jerry Oakes; Colleen McLaughlin; Marion L. Walker; Paula Peterson; Timothy Brei; Connie Buran; Joanna Aben; Bonnie Ohm; Iskandar Bermans; Mazin B. Qumsiyeh; J. M. Vance; Margaret A. Pericak-Vance; Marcy C. Speer

Neural tube defects (NTD) are one of the most common birth defects and are caused by both environmental and genetic factors. The approach to identifying the genes predisposing to NTD, through linkage analysis and candidate gene analysis, is reviewed along with characteristics of a large, nationally ascertained cohort of families. Results from specific assessments of p53, PAX3 and MTHFR failed to suggest that these genes play a major role in NTD development in these families. Advances in genetic laboratory and statistical techniques have made this a prime opportunity for investigation into the causes of complex disorders, such as NTD. However, traditional approaches may prove to be challenging due to the difficulty of ascertaining samplable multiplex families.


Neurogenetics | 1997

The thermolabile variant of methylenetetrahydrofolate reductase (MTHFR) is not a major risk factor for neural tube defect in American Caucasians

Marcy C. Speer; Gordon Worley; Joanne Mackey; Elizabeth C. Melvin; W. J. Oakes; Timothy M. George

ABSTRACTMutations in the gene for methylenetetrahydrofolate reductase (MTHFR) have been implicated as a risk factor in the formation of neural tube defects. We investigated this gene in a series of 65 sporadic American Caucasians patients with lumbosacral NTD and their unaffected parents, using both case-control design and assessment of linkage disequilibrium. We found no evidence to support mutations in MTHFR as a significant risk factor for NTD in this population.


Molecular Genetics and Metabolism | 2012

Persistence of high sustained antibodies to enzyme replacement therapy despite extensive immunomodulatory therapy in an infant with Pompe disease: need for agents to target antibody-secreting plasma cells.

Suhrad G. Banugaria; Trusha T. Patel; Joanne Mackey; Stuti Das; Andrea Amalfitano; Amy S. Rosenberg; Joel Charrow; Yuan-Tsong Chen; Priya S. Kishnani

With the advent of enzyme replacement therapy (ERT) with alglucosidase alfa (rhGAA, Myozyme®) for Pompe disease, the clinical course of the disease has changed. We have previously described the poor outcome in cross reactive immunologic material (CRIM)-negative and high-titer CRIM-positive (HTCP) patients secondary to high sustained antibody titers (HSAT) which effectively neutralize ERT efficacy. Various immunomodulation strategies are being explored to diminish the immune response to ERT. However, once HSAT are formed, tolerization therapy has uniformly failed to lower antibody titers. Here we describe a case in which immunomodulation over a prolonged period of 28 months with cyclophosphamide, intravenous immunoglobulin, plasmapheresis, increased doses of rhGAA and rituximab failed to lower antibody titers and resulted in continued clinical decline in an infantile Pompe disease patient treated with ERT. Thus, it appears that the failure to target the antibody-secreting plasma cells responsible for HSAT led to a failure of tolerance induction. This is the first report using this combination of agents over a very extensive period of time with no success.


Pediatric Anesthesia | 2007

Cardiac arrhythmias following anesthesia induction in infantile‐onset Pompe disease: a case series

Luke Y.‐J. Wang; Allison Kinder Ross; Jennifer S. Li; Stephanie DeArmey; Joanne Mackey; Maryalice Worden; Deyanira Corzo; Claire Morgan; Priya S. Kishnani

Background:  Patients with infantile‐onset Pompe disease suffer from marked hypertrophic cardiomyopathy and an increased risk of arrhythmia. A noncompliant left ventricle predisposes these infants to diastolic heart failure with elevated left ventricular enddiastolic pressure (LVEDP); these patients also commonly develop systolic heart failure. Given this baseline cardiac physiology, coronary perfusion pressure becomes highly sensitive to abrupt changes in diastolic blood pressure (DBP).


Clinical Genetics | 1999

Possible interaction of genotypes at cystathionine β‐synthase and methylenetetrahydrofolate reductase (MTHFR) in neural tube defects

Marcy C. Speer; Jeffrey S. Nye; David G. McLone; Gordon Worley; Elizabeth C. Melvin; Kristi D. Viles; Amy Franklin; Courtney R. Drake; Joanne Mackey; Timothy M. George; David S. Enterline; Herbert E. Fuchs; Robert D. Fitch; Jeffery M. Vance; Margaret A. Pericak-Vance; W. Jerry Oakes; Colleen McLaughlin; Cindy Powell; Arthur S. Aylsworth; Marion L. Walker; Paula Peterson; Timothy Brei; Connie Buran; Bonnie Ohm; Bermans J. Iskandar

Neural tube defects are a common, complex disorder with genetic and environmental components to risk. We investigated the previously reported interaction between homozygosity for the thermolabile variant at the methylenetetrahydrofolate reductase and heterozygosity for the 844ins68 allele at the cystathionine β‐synthase loci in cases with lumbosacral myelomeningocele and their parents. Using control allele frequencies from our sample pooled with those published in the literature, we confirm a marginally significant interaction at these two loci. This finding suggests that additional, larger studies are warranted to investigate this possible interaction in more detail.


Birth Defects Research Part A-clinical and Molecular Teratology | 2008

Further evidence for a maternal genetic effect and a sex-influenced effect contributing to risk for human neural tube defects.

Kristen L. Deak; Deborah G. Siegel; Timothy M. George; Simon G. Gregory; Allison E. Ashley-Koch; Marcy C. Speer; Joanna Aben; Arthur S. Aylsworth; Cynthia M. Powell; Joanne Mackey; Gordon Worley; Timothy Brei; Connie Buran; Joann Bodurtha; Kathleen Sawin; Mark S. Dias; Philip Mack; Elli Meeropol; Nicole Lasarsky; David G. McLone; Joy Ito; W. Jerry Oakes; Marion L. Walker; Paula Peterson; Bermans J. Iskandar

BACKGROUND Neural tube defects (NTDs), including spina bifida and anencephaly, are the second most common birth defect with an incidence of 1/1000. Genetic factors are believed to contribute to NTD risk and family-based studies can be useful for identifying such risk factors. METHODS We ascertained 1066 NTD families (1467 affected patients), including 307 multiplex NTD families. We performed pedigree analysis to describe the inheritance patterns, pregnancy outcomes, and recurrence risks to relatives of various types. RESULTS Myelomeningocele or spina bifida (66.9%) and cranial defects (17.7%) were the most common NTD subtypes observed. The overall male:female ratio for affected individuals was 0.82, and there were even fewer males among individuals with an upper level NTD (0.62). Among twins, 2 of the 5 monozygotic twins and only 3 of 35 dizygotic twins were concordant, while 27% of the same sex twins were concordant, but none of the different sex twins. The estimated 6.3% recurrence risk to siblings (CI 0.04-0.08) is consistent with previous reports. Families with two or more affected individuals show a higher proportion of female transmitters (p = 0.0002). Additionally, the number of affected relatives in maternal compared to paternal lineages was more than double (p = 0.006). There were significantly more miscarriages, infant deaths, and stillborn pregnancies of the maternal aunts and uncles (p < 0.0001) and of first cousins (p = 0.04). CONCLUSIONS Our data provide several lines of evidence consistent with a maternal effect, as well as a sex-influenced effect, in the etiology of NTDs.


Clinical Pediatrics | 2001

Frequency of Celiac Disease in Individuals with Down Syndrome in the United States

Joanne Mackey; William R. Treem; Gordon Worley; Anne Boney; Patricia Hart; Priya S. Kishnani

Ninety-three individuals with Down syndrome (DS) were screened to investigate the prevalence of celiac disease (CD) in the United States. Five of the 93 individuals were antiendomysial antibody (EMA) positive. Of the 5 who tested positive for EMA, 4 were biopsied, 1 refused biopsy. Three of the 4 individuals biopsied manifested changes of CD on small bowel biopsy. This gives a frequency of 3.2% of confirmed CD in our DS individuals and suggests the need for periodic screening for celiac disease in this population.


Journal of Medical Genetics | 2005

Whole genomewide linkage screen for neural tube defects reveals regions of interest on chromosomes 7 and 10

Evadnie Rampersaud; Alexander G. Bassuk; David S. Enterline; Timothy M. George; Deborah G. Siegel; Elizabeth C. Melvin; Joanna Aben; Jason D. Allen; Arthur S. Aylsworth; Timothy Brei; Joann Bodurtha; Connie Buran; L. E. Floyd; Preston Hammock; Bermans J. Iskandar; Joy Ito; John A. Kessler; N. Lasarsky; Philip Mack; Joanne Mackey; David G. McLone; Elli Meeropol; Lorraine Mehltretter; Laura E. Mitchell; W. J. Oakes; Jeffrey S. Nye; Cynthia M. Powell; K. Sawin; R. Stevenson; Marion L. Walker

Neural tube defects (NTDs) are the second most common birth defects (1 in 1000 live births) in the world. Periconceptional maternal folate supplementation reduces NTD risk by 50–70%; however, studies of folate related and other developmental genes in humans have failed to definitively identify a major causal gene for NTD. The aetiology of NTDs remains unknown and both genetic and environmental factors are implicated. We present findings from a microsatellite based screen of 44 multiplex pedigrees ascertained through the NTD Collaborative Group. For the linkage analysis, we defined our phenotype narrowly by considering individuals with a lumbosacral level myelomeningocele as affected, then we expanded the phenotype to include all types of NTDs. Two point parametric analyses were performed using VITESSE and HOMOG. Multipoint parametric and nonparametric analyses were performed using ALLEGRO. Initial results identified chromosomes 7 and 10, both with maximum parametric multipoint lod scores (Mlod) >2.0. Chromosome 7 produced the highest score in the 24 cM interval between D7S3056 and D7S3051 (parametric Mlod 2.45; nonparametric Mlod 1.89). Further investigation demonstrated that results on chromosome 7 were being primarily driven by a single large pedigree (parametric Mlod 2.40). When this family was removed from analysis, chromosome 10 was the most interesting region, with a peak Mlod of 2.25 at D10S1731. Based on mouse human synteny, two candidate genes (Meox2, Twist1) were identified on chromosome 7. A review of public databases revealed three biologically plausible candidates (FGFR2, GFRA1, Pax2) on chromosome 10. The results from this screen provide valuable positional data for prioritisation of candidate gene assessment in future studies of NTDs.

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Timothy M. George

University of Texas at Austin

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David G. McLone

Children's Memorial Hospital

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Arthur S. Aylsworth

University of North Carolina at Chapel Hill

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Cynthia M. Powell

University of North Carolina at Chapel Hill

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