Clinical Overlapping in Autoinflammatory Diseases: The Role of Gene Duplication

Galozzi, Paola; Punzi, Leonardo; Sfriso, Paolo

doi:10.3389/fimmu.2017.00392

Cited by 5 publications

(6 citation statements)

References 19 publications

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“…The mutations in NLRP12 have been associated with familial cold autoinflammatory syndrome-2 (FCAS2; OMIM 611762), which displays autosomal dominant inheritance. This syndrome can be induced after exposure to cold and characterized by skin urticaria, arthralgia, conjunctivitis, musculoskeletal symptoms, deafness, lymphadenopathy, and abdominal pain, most of which are accompanied by recurrent fever and serologic evidence of inflammation [23,24]. As is known, dosage-sensitive genes with genome alteration could result in phenotypic effects and be associated with human diseases, including heart disease, cancers, diabetes, neuropsychiatric disorders and others [25].…”

Section: Discussionmentioning

confidence: 99%

“…According to the literature review and database searching, there is no available pathogenic evidence for triplosensitivity associated with NLRP12. However, Galozzi et al [24] proposed that evolutionary duplication of this gene can have a causative role in autoinflammatory diseases development. Hence, we suggested that these two infants should be followed up regularly on growth and health conditions, especially for autoinflammatory diseases.…”

Section: Discussionmentioning

confidence: 99%

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Prenatal detection and molecular cytogenetic characterization of 19q13.42 microduplication: three reported cases and literature review

et al. 2021

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Background Trisomy 19q is a recognizable syndrome and associated with a wide spectrum of clinical phenotypes in clinic. The purpose of this study was to explore the prenatal phenotypes of 19q13.42 duplication, which was rarely reported in clinic. Case presentation Three pregnant women presenting diverse indications for prenatal diagnosis accepted amniocentesis: increased nuchal translucency and fetal pyelic separation (case 2) and high risk of maternal serum screening for Down syndrome (case 1 and case 3). Case 1 and case 2 shared similar duplicated locus in the region of 19q13.42, encompassing part NLRP12 gene. The latter inherited the chromosomal duplication from the mother with normal phenotypes. Case 3 carried a 1.445 Mb duplication in the 19q13.42q13.43 region. It was proposed that evolutionary duplication of NLRP12 gene could have a causative role in autoinflammatory diseases development. The genotype–phenotype correlation depends mainly on the duplicated size and functional genes involved, which is still yet to be determined. All pregnant women chose to continue the pregnancy and delivered healthy children with no apparent abnormalities. Conclusions The 19q13.42 microduplications in our study were the smallest fragments compared to previous literature. Our findings enriched the prenatal phenotypes for this chromosomal microscopic imbalance. It was proposed that long term follow up analysis should be guaranteed till adulthood to determine whether there will be other emerging clinical symptoms and developmental-behavioral disorders for such carriers.

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Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Prenatal detection and molecular cytogenetic characterization of 19q13.42 microduplication: three reported cases and literature review

et al. 2021

View full text Add to dashboard Cite

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“…The mutations in NLRP12 have been associated with familial cold autoin ammatory syndrome-2 (FCAS2; OMIM 611762), which displays autosomal dominant inheritance. This syndrome can be induced after exposure to cold and characterized by skin urticaria, arthralgia, conjunctivitis, musculoskeletal symptoms, deafness, lymphadenopathy, and abdominal pain, most of which are accompanied by recurrent fever and serologic evidence of in ammation [27,28]. Till now, there are no related reports on NLRP12 duplication in clinic.…”

Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

“…Till now, there are no related reports on NLRP12 duplication in clinic. However, Galozzi et al [28] proposed that evolutionary duplication of this gene can have a causative role in autoin ammatory diseases development. Hence, we suggested that these two infants should be followed up regularly on growth and health conditions, especially for autoin ammatory diseases.…”

Section: Discussionmentioning

confidence: 99%

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Clinical findings and molecular cytogenetic characterization of 19q13.42 microduplication: three cases report and literature review

Zhang

Yue

Shi

et al. 2020

Preprint

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BackgroundTrisomy 19q is a recognizable syndrome and associated with a wide spectrum of clinical phenotypes in clinic. The purpose of this study was to explore the prenatal phenotypes of 19q13.42 duplication, which was rarely reported in clinic. Case presentationThree pregnant women presenting diverse indications for prenatal diagnosis accepted amniocentesis: increased nuchal translucency (case 2) and high risk of trisomy 21 (case 1 and case 3). Case 1 and case 2 shared similar duplicated locus in the region of 19q13.42, encompassing part NLRP12 gene. Case 2 inherited the chromosomal duplication from the mother with normal phenotypes. Case 3 carried a 1.445Mb duplication in the 19q13.42q13.43 region. It was proposed that evolutionary duplication of NLRP12 gene could have a causative role in autoinflammatory diseases development. The genotype-phenotype correlation depends mainly on the duplicated size and functional genes involved, which is still yet to be determined. All pregnant women chose to continue the pregnancy and delivered healthy children with no apparent abnormalities.ConclusionsThe 19q13.42 microduplications in our study are the smallest fragments compared to previous literature. We delineated 19q duplication cases without structural ultrasound anomalies for the first time, which enriched the prenatal phenotypes of this chromosomal aberration. It was proposed that long term follow up analysis should be guaranteed till adulthood to determine whether there will be other emerging clinical symptoms and developmental-behavioral disorders for such carriers.

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Computational model to analyze and characterize the functional mutations of NOD2 protein causing inflammatory disorder – Blau syndrome

Kumar

Laeeque

et al. 2020

Advances in Protein Chemistry and Structural Biology

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Clinical Overlapping in Autoinflammatory Diseases: The Role of Gene Duplication

Cited by 5 publications

References 19 publications

Prenatal detection and molecular cytogenetic characterization of 19q13.42 microduplication: three reported cases and literature review

Prenatal detection and molecular cytogenetic characterization of 19q13.42 microduplication: three reported cases and literature review

Clinical findings and molecular cytogenetic characterization of 19q13.42 microduplication: three cases report and literature review

Computational model to analyze and characterize the functional mutations of NOD2 protein causing inflammatory disorder – Blau syndrome

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