伴有突变的家族性X连锁Ohdo综合征-马阿特-基维特-布伦纳型的临床变异性
Clinical Variability in Familial X-Linked Ohdo Syndrome-Maat-Kievit-Brunner Type with Mutation.
作者信息
Patil Siddaramappa J, Somashekar Puneeth H, Shukla Anju, Siddaiah Satish, Bhat Venkatraman, Girisha Katta M, Rao Pooja N
机构信息
Division of Genetics, Mazumdar Shaw Medical Center, Bangalore, India.
Department of Medical Genetics, Kasturba Medical College, Manipal University, Manipal, India.
出版信息
J Pediatr Genet. 2017 Sep;6(3):198-204. doi: 10.1055/s-0037-1602386. Epub 2017 Apr 24.
Abstract
Ohdo syndrome-Maat-Kievit-Brunner (OSMKB) type is an X-linked recessive disorder, a subtype of blepharophimosis-intellectual disability syndromes caused by mutations in the mediator complex subunit 12 ( ) gene. Here we report a familial OSMKB type with two affected siblings and mutation in gene.
摘要
奥多综合征-马特-基维特-布伦纳（OSMKB）型是一种X连锁隐性疾病，是由中介体复合物亚基12（ ）基因突变引起的睑裂狭小-智力障碍综合征的一种亚型。在此，我们报告了一个有两名患病兄弟姐妹且 基因发生突变的家族性OSMKB型病例。
相似文献
1
Clinical Variability in Familial X-Linked Ohdo Syndrome-Maat-Kievit-Brunner Type with Mutation.
J Pediatr Genet. 2017 Sep;6(3):198-204. doi: 10.1055/s-0037-1602386. Epub 2017 Apr 24.
2
Mutations in MED12 cause X-linked Ohdo syndrome.
Am J Hum Genet. 2013 Mar 7;92(3):401-6. doi: 10.1016/j.ajhg.2013.01.007. Epub 2013 Feb 7.
3
MED12 related disorders.
Am J Med Genet A. 2013 Nov;161A(11):2734-40. doi: 10.1002/ajmg.a.36183. Epub 2013 Oct 10.
4
A female patient with X-linked Ohdo syndrome of the Maat-Kievit-Brunner phenotype caused by a novel variant of MED12.
Congenit Anom (Kyoto). 2020 May;60(3):91-93. doi: 10.1111/cga.12350. Epub 2019 Jul 29.
5
Clinical and neurocognitive characterization of a family with a novel MED12 gene frameshift mutation.
Am J Med Genet A. 2013 Dec;161A(12):3063-71. doi: 10.1002/ajmg.a.36162. Epub 2013 Aug 16.
6
Beyond Ohdo syndrome: A familial missense mutation broadens the MED12 spectrum.
Am J Med Genet A. 2015 Dec;167A(12):3180-5. doi: 10.1002/ajmg.a.37354. Epub 2015 Sep 4.
7
Blepharophimosis-mental retardation (BMR) syndromes: A proposed clinical classification of the so-called Ohdo syndrome, and delineation of two new BMR syndromes, one X-linked and one autosomal recessive.
Am J Med Genet A. 2006 Jun 15;140(12):1285-96. doi: 10.1002/ajmg.a.31270.
8
MED12 Mutation in Two Families with X-Linked Ohdo Syndrome.
Genes (Basel). 2021 Aug 27;12(9):1328. doi: 10.3390/genes12091328.
9
MED12 missense mutation in a three-generation family. Clinical characterization of MED12-related disorders and literature review.
Eur J Med Genet. 2020 Mar;63(3):103768. doi: 10.1016/j.ejmg.2019.103768. Epub 2019 Sep 16.
10
Qualitative and quantitative analysis of MED12 c.887G>A causing both missense and splicing variants in X-linked Ohdo syndrome.
Am J Med Genet A. 2024 Sep;194(9):e63628. doi: 10.1002/ajmg.a.63628. Epub 2024 Apr 24.
引用本文的文献
1
MED12 Loss-of-Function Variants as a Cause of Congenital Diaphragmatic Hernia in Females With Hardikar Syndrome and Nonspecific Intellectual Disability.
Am J Med Genet A. 2025 Jan;197(1):e63868. doi: 10.1002/ajmg.a.63868. Epub 2024 Aug 30.
2
Prenatal diagnosis in a fetuses with a clenched hands, overlapping fingers, and clubfoot due to MED12 deficiency in three affected siblings: A case report.
Front Genet. 2023 Jul 12;14:1037345. doi: 10.3389/fgene.2023.1037345. eCollection 2023.
3
Missense MED12 variants in 22 males with intellectual disability: From nonspecific symptoms to complete syndromes.
Am J Med Genet A. 2023 Jan;191(1):135-143. doi: 10.1002/ajmg.a.63004. Epub 2022 Oct 22.
4
MED12 Mutation in Two Families with X-Linked Ohdo Syndrome.
Genes (Basel). 2021 Aug 27;12(9):1328. doi: 10.3390/genes12091328.
本文引用的文献
1
De novo mutations in genes of mediator complex causing syndromic intellectual disability: mediatorpathy or transcriptomopathy?
Pediatr Res. 2016 Dec;80(6):809-815. doi: 10.1038/pr.2016.162. Epub 2016 Aug 8.
2
Two male sibs with severe micrognathia and a missense variant in MED12.
Eur J Med Genet. 2016 Aug;59(8):367-72. doi: 10.1016/j.ejmg.2016.06.001. Epub 2016 Jun 7.
3
A homozygous nonsense variant in IFT52 is associated with a human skeletal ciliopathy.
Clin Genet. 2016 Dec;90(6):536-539. doi: 10.1111/cge.12762. Epub 2016 Mar 15.
4
Beyond Ohdo syndrome: A familial missense mutation broadens the MED12 spectrum.
Am J Med Genet A. 2015 Dec;167A(12):3180-5. doi: 10.1002/ajmg.a.37354. Epub 2015 Sep 4.
5
Blepharophimosis, short humeri, developmental delay and hirschsprung disease: expanding the phenotypic spectrum of MED12 mutations.
Am J Med Genet A. 2014 Jul;164A(7):1821-5. doi: 10.1002/ajmg.a.36539. Epub 2014 Apr 8.
6
MED12 related disorders.
Am J Med Genet A. 2013 Nov;161A(11):2734-40. doi: 10.1002/ajmg.a.36183. Epub 2013 Oct 10.
7
Clinical and neurocognitive characterization of a family with a novel MED12 gene frameshift mutation.
Am J Med Genet A. 2013 Dec;161A(12):3063-71. doi: 10.1002/ajmg.a.36162. Epub 2013 Aug 16.
8
Mutations in MED12 cause X-linked Ohdo syndrome.
Am J Hum Genet. 2013 Mar 7;92(3):401-6. doi: 10.1016/j.ajhg.2013.01.007. Epub 2013 Feb 7.
9
Elements of morphology: standard terminology for the periorbital region.
Am J Med Genet A. 2009 Jan;149A(1):29-39. doi: 10.1002/ajmg.a.32597.
10
Mediator links epigenetic silencing of neuronal gene expression with x-linked mental retardation.
Mol Cell. 2008 Aug 8;31(3):347-59. doi: 10.1016/j.molcel.2008.05.023.
Zotero 插件