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Paldeep S Atwal - One of the best experts on this subject based on the ideXlab platform.

  • novel x linked syndrome of cardiac valvulopathy keloid scarring and reduced joint mobility due to filamin a substitution g1576r
    American Journal of Medical Genetics Part A, 2016
    Co-Authors: Sophie Blease, Julia Graves, Leah Slattery, Richard Person, Alicia Braxton, Paldeep S Atwal, Weimin He, Jonathan A. Bernstein
    Abstract:

    Filamin A (FLNA) is known to be involved in intracellular actin binding, cell migration, scaffolding, and signaling. We report a novel X-linked syndrome characterized by cardiac valvular disease, keloid scarring and reduced joint mobility in male second cousins due to a previously unreported mutation in FLNA. Whole exome sequencing was performed using standard methods and Segregation Analysis was performed in affected and non-affected family members. A novel hemizygous c.4726G>A (p.G1576R) mutation in FLNA was detected. Segregation Analysis performed on multiple maternal family members showed c.4726G>A (p.G1576R) segregated with disease in an X-linked inheritance pattern. The findings in these cases are distinct from previously described FLNA related disorders by virtue of decreased joint mobility and spontaneous keloid scarring. They occur in association with a novel mutation and represent a novel genetic syndrome. © 2015 Wiley Periodicals, Inc.

  • Novel X-linked syndrome of cardiac valvulopathy, keloid scarring, and reduced joint mobility due to filamin A substitution G1576R.
    American journal of medical genetics. Part A, 2015
    Co-Authors: Paldeep S Atwal, Sophie Blease, Julia Graves, Leah Slattery, Richard Person, Alicia Braxton, Jonathan A. Bernstein, Weimin He, Louanne Hudgins
    Abstract:

    Filamin A (FLNA) is known to be involved in intracellular actin binding, cell migration, scaffolding, and signaling. We report a novel X-linked syndrome characterized by cardiac valvular disease, keloid scarring and reduced joint mobility in male second cousins due to a previously unreported mutation in FLNA. Whole exome sequencing was performed using standard methods and Segregation Analysis was performed in affected and non-affected family members. A novel hemizygous c.4726G>A (p.G1576R) mutation in FLNA was detected. Segregation Analysis performed on multiple maternal family members showed c.4726G>A (p.G1576R) segregated with disease in an X-linked inheritance pattern. The findings in these cases are distinct from previously described FLNA related disorders by virtue of decreased joint mobility and spontaneous keloid scarring. They occur in association with a novel mutation and represent a novel genetic syndrome.

Jonathan A. Bernstein - One of the best experts on this subject based on the ideXlab platform.

  • novel x linked syndrome of cardiac valvulopathy keloid scarring and reduced joint mobility due to filamin a substitution g1576r
    American Journal of Medical Genetics Part A, 2016
    Co-Authors: Sophie Blease, Julia Graves, Leah Slattery, Richard Person, Alicia Braxton, Paldeep S Atwal, Weimin He, Jonathan A. Bernstein
    Abstract:

    Filamin A (FLNA) is known to be involved in intracellular actin binding, cell migration, scaffolding, and signaling. We report a novel X-linked syndrome characterized by cardiac valvular disease, keloid scarring and reduced joint mobility in male second cousins due to a previously unreported mutation in FLNA. Whole exome sequencing was performed using standard methods and Segregation Analysis was performed in affected and non-affected family members. A novel hemizygous c.4726G>A (p.G1576R) mutation in FLNA was detected. Segregation Analysis performed on multiple maternal family members showed c.4726G>A (p.G1576R) segregated with disease in an X-linked inheritance pattern. The findings in these cases are distinct from previously described FLNA related disorders by virtue of decreased joint mobility and spontaneous keloid scarring. They occur in association with a novel mutation and represent a novel genetic syndrome. © 2015 Wiley Periodicals, Inc.

  • Novel X-linked syndrome of cardiac valvulopathy, keloid scarring, and reduced joint mobility due to filamin A substitution G1576R.
    American journal of medical genetics. Part A, 2015
    Co-Authors: Paldeep S Atwal, Sophie Blease, Julia Graves, Leah Slattery, Richard Person, Alicia Braxton, Jonathan A. Bernstein, Weimin He, Louanne Hudgins
    Abstract:

    Filamin A (FLNA) is known to be involved in intracellular actin binding, cell migration, scaffolding, and signaling. We report a novel X-linked syndrome characterized by cardiac valvular disease, keloid scarring and reduced joint mobility in male second cousins due to a previously unreported mutation in FLNA. Whole exome sequencing was performed using standard methods and Segregation Analysis was performed in affected and non-affected family members. A novel hemizygous c.4726G>A (p.G1576R) mutation in FLNA was detected. Segregation Analysis performed on multiple maternal family members showed c.4726G>A (p.G1576R) segregated with disease in an X-linked inheritance pattern. The findings in these cases are distinct from previously described FLNA related disorders by virtue of decreased joint mobility and spontaneous keloid scarring. They occur in association with a novel mutation and represent a novel genetic syndrome.

Lennart Iselius - One of the best experts on this subject based on the ideXlab platform.

  • Segregation Analysis of balanced pericentric inversions in pedigree data
    Clinical Genetics, 2008
    Co-Authors: Stephanie L Sherman, P. Gallano, S Collyer, R. Demey, Jan Lindsten, Margareta Mikkelsen, K. E. Buckton, Ulf Kristoffersson, Lennart Iselius, Newton E. Morton
    Abstract:

    The results of the recent European collaborative prenatal study suggested a Segregation distortion of balanced pericentric inversions from carrier fathers but not carrier mothers (Boue & Gallano 1984). In an attempt to confirm these unexpected results, we examined 216 pedigrees with balanced pericentric inversions collected from three centers and from the literature. We were unable to detect any significant deviation from the expected 1:1 Segregation of balanced pericentric inversions to normal karyotypes among the offspring of either carrier parent. To clarify the discrepancy between the studies, we reanalysed the data from the prenatal study using all karyotyped individuals and, assuming conventional ascertainment rules, found a normal Segregation pattern. We conclude (a) that balanced pericentric inversions segregate normally in both males and females and (b) that some retrospectively selected pedigrees were included as prospective in the prenatal study and this misclassification caused the apparent Segregation distortion from carrier fathers.

  • Segregation Analysis of prostate cancer in sweden support for dominant inheritance
    American Journal of Epidemiology, 1997
    Co-Authors: Henrik Gronberg, Lena Damber, Janerik Damber, Lennart Iselius
    Abstract:

    Several epidemiologic studies have shown familial aggregation of prostate cancer. To assess the nature of familial clustering of prostate cancer, a complex Segregation Analysis was performed on a population-based sample of 2,857 nuclear families ascertained through an affected father diagnosed with prostate cancer in Sweden during 1959-1963. The Segregation Analysis, using a large, unselected population of prostate cancer families, revealed that the observed clustering of prostate cancer was best explained by a high risk allele inherited in a dominant mode, with a high population frequency (1.67%) and a moderate lifetime penetrance (63%). This study confirms the result from one earlier published Segregation Analysis and provides the context for interpreting the recently published linkage of hereditary prostate cancer families to chromosome 1q 24-25 (HPC1).

  • cluster headache is an autosomal dominantly inherited disorder in some families a complex Segregation Analysis
    Journal of Medical Genetics, 1995
    Co-Authors: M B Russell, P G Andersson, L L Thomsen, Lennart Iselius
    Abstract:

    We investigated the mode of inheritance of cluster headache in 370 families. The probands were from a neurological clinic in Jutland and two departments of neurology in Copenhagen County, Denmark. The criteria of the International Headache Society were used. The patterns of Segregation of cluster headache were assessed by complex Segregation Analysis performed with the computer program POINTER. Of the 370 probands with cluster headache, 25 had 36 relatives with cluster headache. The Segregation Analysis suggests that cluster headache has an autosomal dominant gene (p < 0.10) with a penetrance of 0.30-0.34 in males and 0.17-0.21 in females. The gene is present in 3 to 4% of males and 7 to 10% of females with cluster headache. An autosomal dominant gene has a role in cluster headache in some families.

Louanne Hudgins - One of the best experts on this subject based on the ideXlab platform.

  • Novel X-linked syndrome of cardiac valvulopathy, keloid scarring, and reduced joint mobility due to filamin A substitution G1576R.
    American journal of medical genetics. Part A, 2015
    Co-Authors: Paldeep S Atwal, Sophie Blease, Julia Graves, Leah Slattery, Richard Person, Alicia Braxton, Jonathan A. Bernstein, Weimin He, Louanne Hudgins
    Abstract:

    Filamin A (FLNA) is known to be involved in intracellular actin binding, cell migration, scaffolding, and signaling. We report a novel X-linked syndrome characterized by cardiac valvular disease, keloid scarring and reduced joint mobility in male second cousins due to a previously unreported mutation in FLNA. Whole exome sequencing was performed using standard methods and Segregation Analysis was performed in affected and non-affected family members. A novel hemizygous c.4726G>A (p.G1576R) mutation in FLNA was detected. Segregation Analysis performed on multiple maternal family members showed c.4726G>A (p.G1576R) segregated with disease in an X-linked inheritance pattern. The findings in these cases are distinct from previously described FLNA related disorders by virtue of decreased joint mobility and spontaneous keloid scarring. They occur in association with a novel mutation and represent a novel genetic syndrome.

Rebecka S Hess - One of the best experts on this subject based on the ideXlab platform.

  • heritability and complex Segregation Analysis of naturally occurring diabetes in australian terrier dogs
    PLOS ONE, 2020
    Co-Authors: Mei Lun Mui, Thomas R Famula, Paula S Henthorn, Rebecka S Hess
    Abstract:

    The Australian Terrier breed is the breed at highest risk for naturally-occurring diabetes mellitus in the United States, where it is 32 times more likely to develop diabetes compared to mixed breed dogs. However, the heritability and mode of inheritance of spontaneous diabetes in Australian Terriers has not been reported. The aim of this study was therefore to investigate the heritability and mode of inheritance of diabetes in Australian Terriers. A cohort of related Australian Terriers including 383 Australian Terriers without diabetes, 86 Australian Terriers with spontaneous diabetes, and 14 Australian Terriers with an unknown phenotype, was analyzed. A logistic regression model including the effects of sex was formulated to evaluate the heritability of diabetes. The inheritance pattern of spontaneous diabetes in Australian Terriers was investigated by use of complex Segregation Analysis. Six possible inheritance models were studied, and the Akaike Information Criterion was used to determine the best model for diabetes inheritance in Australian Terriers, among the models deemed biologically feasible. Heritability of diabetes in Australian Terriers was estimated at 0.18 (95% confidence interval 0.0–0.67). There was no significant difference in the effect of males and females on disease outcome. Complex Segregation Analysis suggested that the mode of diabetes inheritance in Australian Terriers is polygenic, with no evidence for a large effect single gene influencing diabetes. It is concluded that in the population of Australian Terriers bred in the United States, a relatively small degree of genetic variation contributes to spontaneous diabetes. A genetic uniformity for diabetes-susceptible genes within the population of Australian Terriers bred in the Unites States could increase the risk of diabetes in this cohort. These findings hold promise for future genetic studies of canine diabetes focused on this particular breed.

  • heritability and complex Segregation Analysis of diabetes mellitus in american eskimo dogs
    Journal of Veterinary Internal Medicine, 2019
    Co-Authors: Stephen V Cai, Thomas R Famula, Anita M Oberbauer, Rebecka S Hess
    Abstract:

    Author(s): Cai, Stephen V; Famula, Thomas R; Oberbauer, Anita M; Hess, Rebecka S | Abstract: BackgroundHeritability and mode of inheritance of spontaneous diabetes mellitus (DM) in American Eskimo Dogs (AED) are unknown.ObjectiveInvestigate the heritability and mode of inheritance of DM in AED.AnimalsAn extended family of AED including 71 AED without DM, 47 AED with an unknown phenotype, and 38 AED with spontaneous DM.MethodsRetrospective evaluation of inheritance. A logistic regression model was formulated to evaluate the heritability of DM, including effects of sex and neuter status. Subsequently, complex Segregation Analysis was employed to investigate the inheritance pattern of DM in AED. Six plausible models were considered, and the Akaike Information Criterion was used to determine the best of the biologically feasible models of inheritance of DM in AED.ResultsHeritability of DM in AED is estimated at 0.62 (95% posterior interval 0.01-0.99). Predicted DM probabilities for neutered females (NF), intact females (IF), neutered males (NM), and intact males (IM) were 0.76, 0.11, 0.63, and 0.12, respectively. There was no overlap between the 95% posterior intervals of disease probabilities in NF and IF or in NF and IM. Complex Segregation Analysis suggested that the mode of inheritance of DM in AED is polygenic, with no evidence for a single gene of large effect.Conclusions and clinical importanceThe estimated heritability of DM in AED is high but has low precision. Diabetes mellitus transmission in AED appears to follow a polygenic inheritance. Breeders could successfully implement a breeding program to decrease the incidence of DM in AED.