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Recessive PIGN Mutations in Fryns Syndrome: Evidence for Genetic Heterogeneity.

作者信息

Thompson Miles D, Cole David E

机构信息

Department of Laboratory Medicine and Pathobiology.

Department of Pediatrics (Genetics), University of Toronto, Canada.

出版信息

Hum Mutat. 2016 Jul;37(7):621. doi: 10.1002/humu.23016.

DOI:10.1002/humu.23016
PMID:27300081
Abstract
摘要

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Recessive PIGN Mutations in Fryns Syndrome: Evidence for Genetic Heterogeneity.弗林斯综合征中的隐性PIGN突变：遗传异质性的证据。
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Fryns Syndrome Associated with Recessive Mutations in PIGN in two Separate Families.两个独立家族中与PIGN隐性突变相关的弗林斯综合征
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Congenital diaphragmatic hernia, coarse facies, and acral hypoplasia: Fryns syndrome.先天性膈疝、粗糙面容和肢体末端发育不全：弗林斯综合征。
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引用本文的文献

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Rare Genetic Developmental Disabilities: Mabry Syndrome (MIM 239300) Index Cases and Glycophosphatidylinositol (GPI) Disorders.罕见遗传性发育障碍：马布里综合征（MIM 239300）索引病例和糖磷脂酰肌醇（GPI）障碍。
Genes (Basel). 2024 May 14;15(5):619. doi: 10.3390/genes15050619.
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Excluding Digenic Inheritance of and Variants in Mabry Syndrome (OMIM 239300) Patient: Phenotypic Spectrum Associated with Gene Variants in Hyperphosphatasia with Mental Retardation Syndrome-3 (HPMRS3).排除 Mabry 综合征（OMIM 239300）患者的 和 双基因遗传：与智力障碍伴高磷酸酶血症 3 型（HPMRS3）相关的 基因变异的表型谱。
Genes (Basel). 2023 Jan 30;14(2):359. doi: 10.3390/genes14020359.
3
Diaphragmatic Hernia as a Prenatal Feature of Glycosylphosphatidylinositol Biosynthesis Defects and the Overlap With Fryns Syndrome - Literature Review.
作为糖基磷脂酰肌醇生物合成缺陷产前特征的膈疝及其与弗林斯综合征的重叠——文献综述
Front Genet. 2021 Jun 7;12:674722. doi: 10.3389/fgene.2021.674722. eCollection 2021.
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Lessons learned from 40 novel PIGA patients and a review of the literature.从 40 例新型 PIGA 患者中吸取的经验教训和文献回顾。
Epilepsia. 2020 Jun;61(6):1142-1155. doi: 10.1111/epi.16545. Epub 2020 May 26.
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Significantly different clinical phenotypes associated with mutations in synthesis and transamidase+remodeling glycosylphosphatidylinositol (GPI)-anchor biosynthesis genes.与合成和转酰胺+重塑糖基磷脂酰肌醇（GPI）锚生物合成基因中的突变相关的显著不同的临床表型。
Orphanet J Rare Dis. 2020 Feb 4;15(1):40. doi: 10.1186/s13023-020-1313-0.
6
Recessive loss of function PIGN alleles, including an intragenic deletion with founder effect in La Réunion Island, in patients with Fryns syndrome.PIGN 基因杂合失活，包括雷岛（La Réunion Island）具有创始效应的内含子缺失，与 Fryns 综合征相关。
Eur J Hum Genet. 2018 Mar;26(3):340-349. doi: 10.1038/s41431-017-0087-x. Epub 2018 Jan 12.
7
Hypotonia and intellectual disability without dysmorphic features in a patient with PIGN-related disease.一名患有PIGN相关疾病的患者出现肌张力减退和智力残疾，无畸形特征。
BMC Med Genet. 2017 Nov 2;18(1):124. doi: 10.1186/s12881-017-0481-9.
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PIGN gene expression aberration is associated with genomic instability and leukemic progression in acute myeloid leukemia with myelodysplastic features.在具有骨髓增生异常特征的急性髓系白血病中，PIGN基因表达异常与基因组不稳定及白血病进展相关。
Oncotarget. 2017 May 2;8(18):29887-29905. doi: 10.18632/oncotarget.15136.