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A Rare Case of Odonto-Onycho-Dermal-Dysplasia with WNT10a Mutation.

作者信息

Vasudevan Biju, Sinha Asmita

机构信息

From the Department of Dermatology, AFMC, Pune, Maharashtra, India E-mail:

Department of Dermatology, AIIMS, Patana, Bihar, India.

出版信息

Indian J Dermatol. 2023 May-Jun;68(3):355. doi: 10.4103/ijd.ijd_344_22.

DOI:10.4103/ijd.ijd_344_22
PMID:37529480
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC10389134/
Abstract
摘要
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e4f8/10389134/60b783a7e81f/IJD-68-355c-g005.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e4f8/10389134/7267529f22f7/IJD-68-355c-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e4f8/10389134/db3446b7d758/IJD-68-355c-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e4f8/10389134/3c79a4f210b3/IJD-68-355c-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e4f8/10389134/832fb48d7861/IJD-68-355c-g004.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e4f8/10389134/60b783a7e81f/IJD-68-355c-g005.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e4f8/10389134/7267529f22f7/IJD-68-355c-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e4f8/10389134/db3446b7d758/IJD-68-355c-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e4f8/10389134/3c79a4f210b3/IJD-68-355c-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e4f8/10389134/832fb48d7861/IJD-68-355c-g004.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e4f8/10389134/60b783a7e81f/IJD-68-355c-g005.jpg

相似文献

1
A Rare Case of Odonto-Onycho-Dermal-Dysplasia with WNT10a Mutation.一例罕见的伴有WNT10a突变的牙-甲-皮发育不良病例。
Indian J Dermatol. 2023 May-Jun;68(3):355. doi: 10.4103/ijd.ijd_344_22.
2
Tricho-odonto-onycho-dermal dysplasia and WNT10A mutations.毛发-牙-甲-皮肤发育异常与WNT10A突变
Am J Med Genet A. 2014 Apr;164A(4):1041-8. doi: 10.1002/ajmg.a.36388. Epub 2014 Jan 23.
3
Distinct impacts of bi-allelic WNT10A mutations on the permanent and primary dentitions in odonto-onycho-dermal dysplasia.WNT10A 双等位基因突变对牙釉-牙本质-指甲发育不全中永久性和乳牙列的不同影响。
Am J Med Genet A. 2019 Jan;179(1):57-64. doi: 10.1002/ajmg.a.60682. Epub 2018 Dec 20.
4
Odonto-onycho-dermal dysplasia in a patient homozygous for a WNT10A nonsense mutation and mild manifestations of ectodermal dysplasia in carriers of the mutation.一名WNT10A无义突变纯合子患者的牙-甲-皮发育异常及该突变携带者的外胚层发育异常轻度表现
BMC Dermatol. 2016 Mar 10;16:3. doi: 10.1186/s12895-016-0040-7.
5
Mutation in WNT10A is associated with an autosomal recessive ectodermal dysplasia: the odonto-onycho-dermal dysplasia.WNT10A基因的突变与一种常染色体隐性外胚层发育异常有关：即牙-甲-皮发育异常。
Am J Hum Genet. 2007 Oct;81(4):821-8. doi: 10.1086/520064. Epub 2007 Aug 9.
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WNT10A missense mutation associated with a complete odonto-onycho-dermal dysplasia syndrome.与完全牙-甲-齿龈发育不全综合征相关的 WNT10A 错义突变。
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Case report of Schöpf-Schulz-Passarge syndrome resulting from a missense mutation, p.Arg104Cys, in WNT10A.病例报告：Schöpf-Schulz-Passarge 综合征源于 WNT10A 上的错义突变，p.Arg104Cys。
J Dermatol. 2018 Apr;45(4):475-478. doi: 10.1111/1346-8138.14201. Epub 2017 Dec 22.
8
WNT10A and isolated hypodontia.WNT10A 与孤立性缺牙。
Am J Med Genet A. 2011 May;155A(5):1119-22. doi: 10.1002/ajmg.a.33840. Epub 2011 Apr 11.
9
WNT10A mutations are a frequent cause of a broad spectrum of ectodermal dysplasias with sex-biased manifestation pattern in heterozygotes.WNT10A突变是多种外胚层发育异常的常见原因，杂合子中存在性别偏向的表现模式。
Am J Hum Genet. 2009 Jul;85(1):97-105. doi: 10.1016/j.ajhg.2009.06.001. Epub 2009 Jun 25.
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Schöpf-Schulz-Passarge syndrome resulting from a homozygous nonsense mutation, p.Cys107X, in WNT10A.Schöpf-Schulz-Passarge 综合征源于 WNT10A 基因上的纯合无义突变，p.Cys107X。
Australas J Dermatol. 2011 Aug;52(3):224-6. doi: 10.1111/j.1440-0960.2011.00788.x. Epub 2011 Jun 29.

引用本文的文献

1
Oligodontia in the Clinical Spectrum of Syndromes: A Systematic Review.综合征临床谱中的少牙症：一项系统评价
Dent J (Basel). 2023 Dec 4;11(12):279. doi: 10.3390/dj11120279.

本文引用的文献

1
Distinct impacts of bi-allelic WNT10A mutations on the permanent and primary dentitions in odonto-onycho-dermal dysplasia.WNT10A 双等位基因突变对牙釉-牙本质-指甲发育不全中永久性和乳牙列的不同影响。
Am J Med Genet A. 2019 Jan;179(1):57-64. doi: 10.1002/ajmg.a.60682. Epub 2018 Dec 20.
2
Schopf-Schulz-Passarge Syndrome.绍普夫-舒尔茨-帕萨热综合征
Indian Dermatol Online J. 2018 Nov-Dec;9(6):448-451. doi: 10.4103/idoj.IDOJ_26_18.
3
Odonto-onycho-dermal dysplasia in a patient homozygous for a WNT10A nonsense mutation and mild manifestations of ectodermal dysplasia in carriers of the mutation.
一名WNT10A无义突变纯合子患者的牙-甲-皮发育异常及该突变携带者的外胚层发育异常轻度表现
BMC Dermatol. 2016 Mar 10;16:3. doi: 10.1186/s12895-016-0040-7.
4
Variability in dentofacial phenotypes in four families with WNT10A mutations.四个携带WNT10A突变的家族中牙颌面表型的变异性。
Eur J Hum Genet. 2014 Sep;22(9):1063-70. doi: 10.1038/ejhg.2013.300. Epub 2014 Jan 8.
5
Schöpf-Schulz-Passarge syndrome: further delineation of the phenotype and genetic considerations.舍普夫-舒尔茨-帕萨热综合征：表型的进一步描述及遗传学考量
Acta Derm Venereol. 2008;88(6):607-12. doi: 10.2340/00015555-0547.
6
Mutation in WNT10A is associated with an autosomal recessive ectodermal dysplasia: the odonto-onycho-dermal dysplasia.WNT10A基因的突变与一种常染色体隐性外胚层发育异常有关：即牙-甲-皮发育异常。
Am J Hum Genet. 2007 Oct;81(4):821-8. doi: 10.1086/520064. Epub 2007 Aug 9.
7
Wnt10a regulates dentin sialophosphoprotein mRNA expression and possibly links odontoblast differentiation and tooth morphogenesis.Wnt10a调节牙本质涎磷蛋白的mRNA表达，并可能将成牙本质细胞分化与牙齿形态发生联系起来。
Differentiation. 2007 Jun;75(5):452-62. doi: 10.1111/j.1432-0436.2006.00150.x. Epub 2007 Feb 5.
8
Ectodermal dysplasias: a clinical classification and a causal review.外胚层发育异常：临床分类与病因学综述
Am J Med Genet. 1994 Nov 1;53(2):153-62. doi: 10.1002/ajmg.1320530207.
9
Odontoonychodermal dysplasia: a previously apparently undescribed ectodermal dysplasia.牙甲皮肤发育不全：一种此前明显未被描述过的外胚层发育不全。
Am J Med Genet. 1983 Feb;14(2):335-46. doi: 10.1002/ajmg.1320140213.