Dataset Information

Novel homozygous large deletion including the 5' part of the SPATA7 gene in a consanguineous Israeli Muslim Arab family.

ABSTRACT: PURPOSE: To identify the genetic defect in a consanguineous Israeli Muslim Arab family with juvenile retinitis pigmentosa (RP). METHODS: DNA samples were collected from the index patient, her parents, her affected sister, and two non-affected siblings. Genome-wide linkage analysis with 250 K single nucleotide polymorphism (SNP) arrays was performed using DNA from the two affected patients. Owing to consanguinity in the family, we applied homozygosity mapping to identify the disease-causing gene. The candidate gene SPATA7 was screened for mutations with PCR amplifications and direct Sanger sequencing. RESULTS: Following high-density SNP arrays, we identified several homozygous genomic regions one of which included the SPATA7 gene. Several mutations in SPATA7 have been reported for various forms of retinal dystrophy, including Leber congenital amaurosis (LCA) and juvenile RP. PCR-based sequence content mapping, long-distance PCR amplifications, and subsequent sequencing analysis revealed a homozygous 63.4 kb large deletion that encompasses the 5' part of the SPATA7 gene including exons 1-5. The mutation showed concordant segregation with the phenotype in the family as expected for autosomal recessive mode of inheritance and is consistent with a diagnosis of juvenile RP. CONCLUSIONS: We report a novel homozygous large deletion in SPATA7 associated with juvenile RP in a consanguineous Israeli Muslim Arab family. This is the first larger deletion mutation reported for SPATA7.

SUBMITTER: Mayer AK

PROVIDER: S-EPMC4360169 | biostudies-literature | 2015

REPOSITORIES: biostudies-literature

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Novel homozygous large deletion including the 5' part of the SPATA7 gene in a consanguineous Israeli Muslim Arab family.

Mayer Anja-Kathrin AK Mahajnah Muhammad M Zobor Ditta D Bonin Michael M Sharkia Rajech R Wissinger Bernd B

Molecular vision 20150315

<h4>Purpose</h4>To identify the genetic defect in a consanguineous Israeli Muslim Arab family with juvenile retinitis pigmentosa (RP).<h4>Methods</h4>DNA samples were collected from the index patient, her parents, her affected sister, and two non-affected siblings. Genome-wide linkage analysis with 250 K single nucleotide polymorphism (SNP) arrays was performed using DNA from the two affected patients. Owing to consanguinity in the family, we applied homozygosity mapping to identify the disease- ...[more]

PMID: 25814828

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Project description:The influence of the health-related behavior of one spouse on that of the other is an important research question with public policy reprecussions. Yet, we are unaware of any previous study, which considered endogeneity problems between couples. Moreover, only a few studies considered ethnic origin differences among couples. Based on the 2016 wave of the Israeli longitudinal survey, we observe the cross-sectional correlation between the married couples' BMI, age, and accumulated wealth. The BMI (= [Formula: see text]) is a conventional measure of obesity, where BMI?25 is considered overweight. Using a 3SLS methodology (in an effort to correct the endogeneity problem associated with BMI couples), the analysis tests the mutual obesity hypothesis among married couples. This hypothesis states that the BMI of the male influences that of a female and vice versa. Results indicate that on the one hand, a one-percent BMI increase among Arab Israeli males is associated with a projected 0.969 percent BMI increase among Arab Israeli females (p = 0.017); and in the case that an Arab Israeli male suffers from overweight, the projected probability of his Arab Israeli female counterpart to suffer from overweight as well rises (p = 0.050). On the other hand, one cannot reject the null hypothesis that projected BMI of the Arab Israeli male is unaffected by that of his Arab Israeli female counterpart (p = 0.907 and p = 0.853). As for the Jewish Israeli population, in the case that the 3SLS methodology is employed, so that the endogeneity problem among couples is considered, a one-percent BMI increase among Jewish Israeli females is associated with a projected 0.639 percent BMI increase among Jewish Israeli males (p = 0.091). Unlike Arab Israeli couples, no support is found to indicate the influence in the other direction, namely, the BMI of the male influences that of the female spouse. Research findings may thus be of relevance to public health and policy planners. Two limitations of this research lie in: 1) the self-reported BMI (which might be different from the measured BMI); and 2) missing confounders, such as regional dummies, which are not available in the dataset.

Dataset Information

Novel homozygous large deletion including the 5' part of the SPATA7 gene in a consanguineous Israeli Muslim Arab family.

Publications

Novel homozygous large deletion including the 5' part of the SPATA7 gene in a consanguineous Israeli Muslim Arab family.

Similar Datasets

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