Okihiro syndrome and acro-renal-ocular syndrome: clinical overlap, expansion of the phenotype, and absence of PAX2 mutations in two new families.

Suppr

超能文献

作者信息

Becker K, Beales P L, Calver D M, Matthijs G, Mohammed S N

出版信息

J Med Genet. 2002 Jan;39(1):68-71. doi: 10.1136/jmg.39.1.68.

DOI:10.1136/jmg.39.1.68

PMID:11826030

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC1734967/

Abstract

摘要

相似文献

Okihiro syndrome and acro-renal-ocular syndrome: clinical overlap, expansion of the phenotype, and absence of PAX2 mutations in two new families.

J Med Genet. 2002 Jan;39(1):68-71. doi: 10.1136/jmg.39.1.68.

Mutations at the SALL4 locus on chromosome 20 result in a range of clinically overlapping phenotypes, including Okihiro syndrome, Holt-Oram syndrome, acro-renal-ocular syndrome, and patients previously reported to represent thalidomide embryopathy.

J Med Genet. 2003 Jul;40(7):473-8. doi: 10.1136/jmg.40.7.473.

Novel mutations in the gene SALL4 provide further evidence for acro-renal-ocular and Okihiro syndromes being allelic entities, and extend the phenotypic spectrum.

J Med Genet. 2004 Aug;41(8):e102. doi: 10.1136/jmg.2004.019505.

Okihiro syndrome is caused by SALL4 mutations.

Hum Mol Genet. 2002 Nov 1;11(23):2979-87. doi: 10.1093/hmg/11.23.2979.

SALL4 mutations in Okihiro syndrome (Duane-radial ray syndrome), acro-renal-ocular syndrome, and related disorders.

Hum Mutat. 2005 Sep;26(3):176-83. doi: 10.1002/humu.20215.

Papillorenal ("renal coloboma") syndrome.

Am J Ophthalmol. 2002 Aug;134(2):300-1; author reply 301. doi: 10.1016/s0002-9394(02)01533-7.

SALL4 deletions are a common cause of Okihiro and acro-renal-ocular syndromes and confirm haploinsufficiency as the pathogenic mechanism.

J Med Genet. 2004 Sep;41(9):e113. doi: 10.1136/jmg.2004.019901.

Further delineation of renal-coloboma syndrome in patients with extreme variability of phenotype and identical PAX2 mutations.

Am J Hum Genet. 1997 Apr;60(4):869-78.

The mouse Pax2(1Neu) mutation is identical to a human PAX2 mutation in a family with renal-coloboma syndrome and results in developmental defects of the brain, ear, eye, and kidney.

Proc Natl Acad Sci U S A. 1996 Nov 26;93(24):13870-5. doi: 10.1073/pnas.93.24.13870.

Renal-coloboma syndrome: report of a novel PAX2 gene mutation.

Am J Ophthalmol. 2001 Dec;132(6):910-4. doi: 10.1016/s0002-9394(01)01231-4.

引用本文的文献

A novel de novo nonsense mutation in SALL4 causing duane radial ray syndrome: a case report and expanding the phenotypic spectrum.

BMC Med Genomics. 2023 Feb 24;16(1):33. doi: 10.1186/s12920-023-01467-1.

Temporal changes of Sall4 lineage contribution in developing embryos and the contribution of Sall4-lineages to postnatal germ cells in mice.

Sci Rep. 2018 Nov 6;8(1):16410. doi: 10.1038/s41598-018-34745-5.

Two missense mutations in SALL4 in a patient with microphthalmia, coloboma, and optic nerve hypoplasia.

Ophthalmic Genet. 2017 Jul-Aug;38(4):371-375. doi: 10.1080/13816810.2016.1217550. Epub 2016 Sep 23.

Diversified clinical presentations associated with a novel sal-like 4 gene mutation in a Chinese pedigree with Duane retraction syndrome.

Mol Vis. 2013 May 6;19:986-94. Print 2013.

Ocular manifestations (strabismus: duane syndrome; and retinal nerve fiber hypoplasia) in okihiro syndrome (duane radial ray syndrome).

Binocul Vis Strabolog Q Simms Romano. 2012;27(4):235-42.

[Okihiro syndrome : Duane's syndrome and radial malformations of the limbs].

Ophthalmologe. 2008 Jun;105(6):588-91. doi: 10.1007/s00347-007-1633-7.

J Med Genet. 2003 Jul;40(7):473-8. doi: 10.1136/jmg.40.7.473.

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