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Maternal uniparental disomy of chromosome 15 and concomitant STRC and CATSPER2 deletion-mediated deafness-infertility syndrome.15号染色体母源单亲二倍体与伴发的STR和CATSPER2缺失介导的耳聋-不育综合征
Am J Med Genet A. 2017 May;173(5):1436-1439. doi: 10.1002/ajmg.a.38154. Epub 2017 Mar 20.
2
Frequency of the STRC-CATSPER2 deletion in STRC-associated hearing loss patients.STR-C 相关听力损失患者中 STRC-CATSPER2 缺失的频率。
Sci Rep. 2022 Jan 12;12(1):634. doi: 10.1038/s41598-021-04688-5.
3
Sensorineural deafness and male infertility: a contiguous gene deletion syndrome.感音神经性耳聋与男性不育：一种相邻基因缺失综合征。
J Med Genet. 2007 Apr;44(4):233-40. doi: 10.1136/jmg.2006.045765. Epub 2006 Nov 10.
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Prenatal cytogenomic identification and molecular refinement of compound heterozygous STRC deletion breakpoints.产前细胞遗传学鉴定和分子细化复合杂合 STRC 缺失断点。
Mol Genet Genomic Med. 2019 Aug;7(8):e806. doi: 10.1002/mgg3.806. Epub 2019 Jun 19.
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Mosaic maternal uniparental disomy of chromosome 15 in Prader-Willi syndrome: utility of genome-wide SNP array.15 号染色体母源单亲二体性镶嵌在 Prader-Willi 综合征中的作用：全基因组 SNP 微阵列的应用。
Am J Med Genet A. 2013 Jan;161A(1):166-71. doi: 10.1002/ajmg.a.35625. Epub 2012 Dec 7.
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Advanced maternal age at childbirth and the development of uniparental disomy. A commentary on the proportion of uniparental disomy is increased in Prader-Willi syndrome due to an advanced maternal childbearing age in Korea.分娩时产妇年龄较大与单亲二体的发生。关于韩国因产妇生育年龄较大导致普拉德-威利综合征中单亲二体比例增加的评论。
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Prader-Willi syndrome and Tay-Sachs disease in association with mixed maternal uniparental isodisomy and heterodisomy 15 in a girl who also had isochromosome Xq.一名患有X染色体长臂等臂染色体的女孩，同时患有普拉德-威利综合征和泰-萨克斯病，并伴有母源性单亲同二体和15号染色体异二体嵌合。
Am J Med Genet A. 2015 Jan;167A(1):180-4. doi: 10.1002/ajmg.a.36790. Epub 2014 Oct 6.
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Prader-Willi syndrome resulting from an unbalanced translocation: characterization by array comparative genomic hybridization.由不平衡易位导致的普拉德-威利综合征：通过阵列比较基因组杂交进行特征分析。
Clin Genet. 2004 Jun;65(6):477-82. doi: 10.1111/j.0009-9163.2004.00261.x.
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CATSPER2, a human autosomal nonsyndromic male infertility gene.CATSPER2，一种人类常染色体非综合征性男性不育基因。
Eur J Hum Genet. 2003 Jul;11(7):497-502. doi: 10.1038/sj.ejhg.5200991.

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Sensorineural deafness in a child with Prader-Willi Syndrome-A rare case report.一名患有普拉德-威利综合征儿童的感音神经性耳聋——一例罕见病例报告。
J Family Med Prim Care. 2025 May;14(5):2078-2080. doi: 10.4103/jfmpc.jfmpc_1867_24. Epub 2025 May 31.
2
Characterization of the promoter region of the murine Catsper2 gene.鼠 Catsper2 基因启动子区域的特征分析。
FEBS Open Bio. 2022 Dec;12(12):2236-2249. doi: 10.1002/2211-5463.13518. Epub 2022 Nov 17.
3
Prenatal cytogenomic identification and molecular refinement of compound heterozygous STRC deletion breakpoints.产前细胞遗传学鉴定和分子细化复合杂合 STRC 缺失断点。
Mol Genet Genomic Med. 2019 Aug;7(8):e806. doi: 10.1002/mgg3.806. Epub 2019 Jun 19.

本文引用的文献

1
Detection of Hereditary 1,25-Hydroxyvitamin D-Resistant Rickets Caused by Uniparental Disomy of Chromosome 12 Using Genome-Wide Single Nucleotide Polymorphism Array.使用全基因组单核苷酸多态性阵列检测由12号染色体单亲二体引起的遗传性1,25-二羟维生素D抵抗性佝偻病
PLoS One. 2015 Jul 8;10(7):e0131157. doi: 10.1371/journal.pone.0131157. eCollection 2015.
2
DFNB16 is a frequent cause of congenital hearing impairment: implementation of STRC mutation analysis in routine diagnostics.DFNB16是先天性听力障碍的常见病因：常规诊断中STR C基因突变分析的应用
Clin Genet. 2015;87(1):49-55. doi: 10.1111/cge.12332. Epub 2014 Jan 21.
3
Maternal uniparental isodisomy causing autosomal recessive GM1 gangliosidosis: a clinical report.母源性单亲二体导致常染色体隐性GM1神经节苷脂贮积症：一份临床报告。
J Genet Couns. 2014 Oct;23(5):734-41. doi: 10.1007/s10897-014-9720-9. Epub 2014 Apr 30.
4
Maternal uniparental disomy 14 revealed by alpha 1 antitrypsin deficiency.α1抗胰蛋白酶缺乏症揭示的母源性单亲二体14。
Clin Res Hepatol Gastroenterol. 2014 Oct;38(5):604-6. doi: 10.1016/j.clinre.2014.01.011. Epub 2014 Mar 11.
5
Uniparental disomy of chromosome 8 leading to homozygosity of a CYP11B1 mutation in a patient with congenital adrenal hyperplasia: implication for a rare etiology of an autosomal recessive disorder.8号染色体单亲二体导致先天性肾上腺皮质增生症患者CYP11B1突变纯合子：对常染色体隐性疾病罕见病因的启示
Endocr J. 2014;61(6):629-33. doi: 10.1507/endocrj.ej13-0509. Epub 2014 Mar 13.
6
Microarray analysis unmasked paternal uniparental disomy of chromosome 12 in a patient with isolated sulfite oxidase deficiency.微阵列分析揭示了一位孤立亚硫酸盐氧化酶缺乏症患者 12 号染色体的单亲二体性。
Clin Chim Acta. 2013 Nov 15;426:13-7. doi: 10.1016/j.cca.2013.08.013. Epub 2013 Aug 29.
7
Maternal uniparental isodisomy of chromosome 6 reveals a TULP1 mutation as a novel cause of cone dysfunction.母源单亲二体性 6 号染色体导致视锥细胞功能障碍，揭示 TULP1 突变是其新的致病原因。
Ophthalmology. 2013 Jun;120(6):1239-46. doi: 10.1016/j.ophtha.2012.12.005. Epub 2013 Mar 15.
8
Context-based FISH localization of genomic rearrangements within chromosome 15q11.2q13 duplicons.基于背景的15号染色体q11.2q13重复子内基因组重排的荧光原位杂交定位
Mol Cytogenet. 2011 Aug 8;4(1):15. doi: 10.1186/1755-8166-4-15.
9
Maternal age effect on the development of Prader-Willi syndrome resulting from upd(15)mat through meiosis 1 errors.母龄对减数分裂 1 错误导致的 upd(15)mat 引起的 Prader-Willi 综合征发展的影响。
J Hum Genet. 2011 Aug;56(8):566-71. doi: 10.1038/jhg.2011.59. Epub 2011 Jun 2.
10
UPD detection using homozygosity profiling with a SNP genotyping microarray.利用 SNP 基因分型微阵列进行同质性分析检测 UPD。
Am J Med Genet A. 2011 Apr;155A(4):757-68. doi: 10.1002/ajmg.a.33939. Epub 2011 Mar 15.

Maternal uniparental disomy of chromosome 15 and concomitant STRC and CATSPER2 deletion-mediated deafness-infertility syndrome.

作者信息

Karger Lisa, Khan Wahab A, Calabio Rafaela, Singh Ram, Xiang Bixia, Babu Arvind, Cohen Ninette, Yang Amy C, Scott Stuart A

机构信息

Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, New York.

Division of Neonatology, Mount Sinai West, New York, New York.

出版信息

Am J Med Genet A. 2017 May;173(5):1436-1439. doi: 10.1002/ajmg.a.38154. Epub 2017 Mar 20.

DOI:10.1002/ajmg.a.38154
PMID:28317263
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC5397338/
Abstract
摘要