Intrauterine growth restriction associated with paternal isodisomy of chromosome 5: a clinical report and literature survey

Kunwar, Fulesh; Pabst, Rebecca; Bakshi,

doi:10.1080/14767058.2018.1506443

Cited by 3 publications

(2 citation statements)

References 15 publications

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“…Moreover, we identified unconventional heterogeneous genetic etiologies for FNIP1 deficiency in two patients, expanding the variant spectrum of this novel inborn error of immunity (IEI; supplemental Figure 10A). In fact, only a limited number of cases of chromosome 5 UPD have been reported 16 . Our findings argue for the clinical use of exome sequencing with copy number variants analysis in patients with complex phenotypes.…”

Section: Fnip1 Deficiency Is Associated With Altered Cell Metabolismmentioning

confidence: 99%

Absent B cells, agammaglobulinemia, and hypertrophic cardiomyopathy in folliculin-interacting protein 1 deficiency

Saettini

Poli

Vengoechea

et al. 2021

Blood

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Agammaglobulinemia is the most profound primary antibody deficiency that can occur due to an early termination of B-cell development. We here investigated three novel patients, including the first known adult, from unrelated families with agammaglobulinemia, recurrent infections, and hypertrophic cardiomyopathy (HCM). Two of them also presented with intermittent or severe chronic neutropenia. We identified homozygous or compound heterozygous variants in the gene for Folliculin interacting protein 1 (FNIP1), leading to loss of the FNIP1 protein. B-cell metabolism, including mitochondrial numbers and activity and PI3K/AKT pathway, was impaired. These defects recapitulated the Fnip1-/- animal model. Moreover, we identified either uniparental disomy or copy number variants [CNV] in two patients, expanding the variant spectrum of this novel inborn error of immunity. The results indicate that FNIP1 deficiency can be caused by complex genetic mechanisms and support the clinical utility of exome sequencing and CNV analysis in patients with broad phenotypes, including agammaglobulinemia and HCM. FNIP1 deficiency is a novel inborn error of immunity characterized by early and severe B-cell development defect, agammaglobulinemia, variable neutropenia, and HCM. Our findings elucidate a functional and relevant role of FNIP1 in B-cell development and metabolism and potentially neutrophil activity.

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Section: Fnip1 Deficiency Is Associated With Altered Cell Metabolismmentioning

confidence: 99%

Absent B cells, agammaglobulinemia, and hypertrophic cardiomyopathy in folliculin-interacting protein 1 deficiency

Saettini

Poli

Vengoechea

et al. 2021

Blood

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“…To date, more studies have shown that UPD will result in FGR (22)(23)(24). Our study identified a loss of heterozygosity in the 14q13.2q21.3 region who exhibit FGR combined with ventricular septal defect, auricle abnormality and hypoxia.…”

Section: Discussionmentioning

confidence: 58%

The Genetic Etiology Diagnosis of Fetal Growth Restriction Using Single-Nucleotide Polymorphism-Based Chromosomal Microarray Analysis

Chen¹,

Xie

Jiang³

et al. 2021

Front. Pediatr.

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Background: An increase in pathogenic copy number variants (pCNVs) has been recognized to associate with fetal growth restriction (FGR). Here, we aim to explore the application value of chromosomal microarray analysis (CMA) in prenatal diagnosis of FGR.Methods: Prenatal ultrasound was applied to identify FGR. A total of 149 pregnant women with FGR were enrolled in our study. All subjects underwent karyotype analysis and CMA to reveal the chromosomal abnormalities.Results: In this study, all subjects were successfully detected by karyotype and CMA analyses. Of these subjects, the chromosomal abnormalities detection rate was 5.37% (8/149) for karyotyping and 13.42% (20/149) for CMA, respectively. Among them, an 8.05% (12/149) incremental yield of CMA over karyotype analysis was observed (p = 0.004). In addition, a significant difference of pCNV detection rate was observed between the groups with different high-risk factors (p = 0.005). The FGR with structural anomalies group showed the highest pCNV detection rate (33.33%), followed by the FGR with non-structural anomalies group (8.77%) and the isolated FGR group (8.06%).Conclusion: In conclusion, CMA technology showed an effective application value in etiology diagnosis of FGR. We believe that CMA should be recommended as first-line detection technology for prenatal diagnosis in FGR.

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Prenatal diagnosis of maternal uniparental disomy 5 by amniocentesis associated with confined placental mosaicism for trisomy 5 and fetal trisomy 21 in a pregnancy

Chen

Chern

Wang

et al. 2020

Taiwanese Journal of Obstetrics and Gynecology

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Intrauterine growth restriction associated with paternal isodisomy of chromosome 5: a clinical report and literature survey

Abstract: The present case supports the reports that genes on chromosome 5 are nonimprinted. The implications of abnormal genetic findings on genetic counseling are discussed.

Cited by 3 publications

References 15 publications

Absent B cells, agammaglobulinemia, and hypertrophic cardiomyopathy in folliculin-interacting protein 1 deficiency

Absent B cells, agammaglobulinemia, and hypertrophic cardiomyopathy in folliculin-interacting protein 1 deficiency

The Genetic Etiology Diagnosis of Fetal Growth Restriction Using Single-Nucleotide Polymorphism-Based Chromosomal Microarray Analysis

Prenatal diagnosis of maternal uniparental disomy 5 by amniocentesis associated with confined placental mosaicism for trisomy 5 and fetal trisomy 21 in a pregnancy

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