TBL1XR1基因中c.1337A>G突变导致的皮尔庞特综合征。 - Suppr

Suppr

超能文献

Pierpont syndrome due to mutation c.1337A>G in TBL1XR1 gene.

作者信息

Tesarova Marketa, Baxova Alice, Hansikova Hana, Lambert Lukas, Vondrackova Alzbeta, Leiska Alena, Zeman Jiri

机构信息

Department of Paediatrics and Adolescent Medicine.

Institute of Biology and Medical Genetics.

出版信息

Clin Dysmorphol. 2022 Jul 1;31(3):145-148. doi: 10.1097/MCD.0000000000000416. Epub 2022 Feb 14.

DOI:10.1097/MCD.0000000000000416

PMID:35165208

Abstract

摘要

相似文献

Pierpont syndrome due to mutation c.1337A>G in TBL1XR1 gene.

Clin Dysmorphol. 2022 Jul 1;31(3):145-148. doi: 10.1097/MCD.0000000000000416. Epub 2022 Feb 14.

A specific mutation in TBL1XR1 causes Pierpont syndrome.

J Med Genet. 2016 May;53(5):330-7. doi: 10.1136/jmedgenet-2015-103233. Epub 2016 Jan 14.

TBL1XR1 mutations in Pierpont syndrome are not restricted to the recurrent p.Tyr446Cys mutation.

Am J Med Genet A. 2018 Dec;176(12):2813-2818. doi: 10.1002/ajmg.a.40510. Epub 2018 Oct 26.

A novel de novo pathogenic variant in TBL1XR1 as a new proposed cause of Pierpont syndrome.

Am J Med Genet A. 2023 Jun;191(6):1576-1580. doi: 10.1002/ajmg.a.63162. Epub 2023 Feb 26.

Pierpont syndrome associated with the p.Tyr446Cys missense mutation in TBL1XR1.

Eur J Med Genet. 2017 Oct;60(10):504-508. doi: 10.1016/j.ejmg.2017.07.003. Epub 2017 Jul 4.

De novo deletion of TBL1XR1 in a child with non-specific developmental delay supports its implication in intellectual disability.

Am J Med Genet A. 2014 Sep;164A(9):2335-7. doi: 10.1002/ajmg.a.36619. Epub 2014 May 28.

An animal model for Pierpont syndrome: a mouse bearing the Tbl1xr1Y446C/Y446C mutation.

Hum Mol Genet. 2022 Aug 25;31(17):2951-2963. doi: 10.1093/hmg/ddac086.

TBL1XR1 associated intellectual disability, a new missense variant with dysmorphic features plus autism: Expanding the phenotypic spectrum.

Clin Genet. 2021 Jun;99(6):812-817. doi: 10.1111/cge.13937. Epub 2021 Feb 15.

Increased homozygosity in the first Hispanic patient with plantar lipomatosis, unusual facies, and developmental delay (Pierpont syndrome): a case report.

J Med Case Rep. 2016 Aug 12;10(1):223. doi: 10.1186/s13256-016-0997-1.

A heritable microduplication encompassing TBL1XR1 causes a genomic sister-disorder for the 3q26.32 microdeletion syndrome.

Am J Med Genet A. 2017 Aug;173(8):2132-2138. doi: 10.1002/ajmg.a.38285. Epub 2017 Jun 2.

引用本文的文献

Different mutations in TBL1XR1 lead to diverse phenotypes of neurodevelopmental disorder: two case reports.

BMC Med Genomics. 2025 May 27;18(1):96. doi: 10.1186/s12920-025-02169-6.

Novel Arthrogryposis Multiplex Congenita Presentation in a Newborn With Pierpont Syndrome.

J Investig Med High Impact Case Rep. 2023 Jan-Dec;11:23247096221150637. doi: 10.1177/23247096221150637.

Rare variant of TBL1XR1 in West syndrome: A case report.

Mol Genet Genomic Med. 2022 Jul;10(7):e1991. doi: 10.1002/mgg3.1991. Epub 2022 May 25.

文献AI研究员

20分钟写一篇综述，助力文献阅读效率提升50倍。

立即体验

用中文搜PubMed

大模型驱动的PubMed中文搜索引擎

马上搜索

文档翻译

学术文献翻译模型，支持多种主流文档格式。

立即体验

Pierpont syndrome due to mutation c.1337A>G in TBL1XR1 gene.

作者信息

Tesarova Marketa, Baxova Alice, Hansikova Hana, Lambert Lukas, Vondrackova Alzbeta, Leiska Alena, Zeman Jiri

机构信息

Department of Paediatrics and Adolescent Medicine.

Institute of Biology and Medical Genetics.

出版信息

Clin Dysmorphol. 2022 Jul 1;31(3):145-148. doi: 10.1097/MCD.0000000000000416. Epub 2022 Feb 14.

DOI:10.1097/MCD.0000000000000416

PMID:35165208

Abstract

摘要

相似文献

Pierpont syndrome due to mutation c.1337A>G in TBL1XR1 gene.

Clin Dysmorphol. 2022 Jul 1;31(3):145-148. doi: 10.1097/MCD.0000000000000416. Epub 2022 Feb 14.

A specific mutation in TBL1XR1 causes Pierpont syndrome.

J Med Genet. 2016 May;53(5):330-7. doi: 10.1136/jmedgenet-2015-103233. Epub 2016 Jan 14.

TBL1XR1 mutations in Pierpont syndrome are not restricted to the recurrent p.Tyr446Cys mutation.

Am J Med Genet A. 2018 Dec;176(12):2813-2818. doi: 10.1002/ajmg.a.40510. Epub 2018 Oct 26.

A novel de novo pathogenic variant in TBL1XR1 as a new proposed cause of Pierpont syndrome.

Am J Med Genet A. 2023 Jun;191(6):1576-1580. doi: 10.1002/ajmg.a.63162. Epub 2023 Feb 26.

Pierpont syndrome associated with the p.Tyr446Cys missense mutation in TBL1XR1.

Eur J Med Genet. 2017 Oct;60(10):504-508. doi: 10.1016/j.ejmg.2017.07.003. Epub 2017 Jul 4.

De novo deletion of TBL1XR1 in a child with non-specific developmental delay supports its implication in intellectual disability.

Am J Med Genet A. 2014 Sep;164A(9):2335-7. doi: 10.1002/ajmg.a.36619. Epub 2014 May 28.

An animal model for Pierpont syndrome: a mouse bearing the Tbl1xr1Y446C/Y446C mutation.

Hum Mol Genet. 2022 Aug 25;31(17):2951-2963. doi: 10.1093/hmg/ddac086.

TBL1XR1 associated intellectual disability, a new missense variant with dysmorphic features plus autism: Expanding the phenotypic spectrum.

Clin Genet. 2021 Jun;99(6):812-817. doi: 10.1111/cge.13937. Epub 2021 Feb 15.

Increased homozygosity in the first Hispanic patient with plantar lipomatosis, unusual facies, and developmental delay (Pierpont syndrome): a case report.

J Med Case Rep. 2016 Aug 12;10(1):223. doi: 10.1186/s13256-016-0997-1.

A heritable microduplication encompassing TBL1XR1 causes a genomic sister-disorder for the 3q26.32 microdeletion syndrome.

Am J Med Genet A. 2017 Aug;173(8):2132-2138. doi: 10.1002/ajmg.a.38285. Epub 2017 Jun 2.

引用本文的文献

Different mutations in TBL1XR1 lead to diverse phenotypes of neurodevelopmental disorder: two case reports.

BMC Med Genomics. 2025 May 27;18(1):96. doi: 10.1186/s12920-025-02169-6.

Novel Arthrogryposis Multiplex Congenita Presentation in a Newborn With Pierpont Syndrome.

J Investig Med High Impact Case Rep. 2023 Jan-Dec;11:23247096221150637. doi: 10.1177/23247096221150637.

Rare variant of TBL1XR1 in West syndrome: A case report.

Mol Genet Genomic Med. 2022 Jul;10(7):e1991. doi: 10.1002/mgg3.1991. Epub 2022 May 25.