scholarly journals Analysis of copy number variations of WNT4 gene in a Chinese population with Müllerian anomalies

2021 ◽  
Vol 16 (1) ◽  
Author(s):  
Ying Zhu ◽  
Ruyi Wang ◽  
Yun Cheng ◽  
Yang Han ◽  
Tengyan Li ◽  
...  
Keyword(s):  
Copy Number ◽  
Chinese Population ◽  
Chinese Women ◽  
Integration Site ◽  
Copy Number Variations ◽  
Heterozygous Deletion ◽  
Mullerian Anomalies ◽  
Müllerian Anomalies ◽  
Wnt4 Gene ◽  
The Relationship

Abstract Background To investigate the genetic contribution of copy number variations (CNVs) in Wingless-type MMTV integration site family, member 4 (WNT4), in a Chinese population with Müllerian anomalies (MA), copy number analysis of WNT4 by Multiplex ligation‐dependent probe amplification (MLPA) was performed on 248 female patients. Some studies have shown that heterozygous missense mutation of WNT4 can lead to MA. However, few studies on the relationship between WNT4 CNVs and MA have been performed. Results Among the 248 Chinese women affected by MA in this study, heterozygous deletion of WNT4 was detected in a single patient. Conclusions MLPA identified one heterozygous deletion in WNT4 in a single female patient among 248 Chinese women affected by MA. This study firstly reports CNVs of WNT4 in a large sample of MA patients from the Chinese population, which suggests that CNVs of WNT4 cannot be excluded in the occurrence of MA. This provides a genetic basis for precise treatment in the future.

scholarly journals A replication study of schizophrenia-related rare copy number variations in a Han Southern Chinese population

Hereditas ◽  
2017 ◽  
Vol 154 (1) ◽  
Author(s):  
Jianmin Yuan ◽  
Jianlin Hu ◽  
Zhiqiang Li ◽  
Fuquan Zhang ◽  
Dexiang Zhou ◽  
...  
Keyword(s):  
Copy Number ◽  
Chinese Population ◽  
Copy Number Variations ◽  
Replication Study ◽  
Southern Chinese

AB015. The relationship between copy number variations and high myopia in Chinese: a case-control study

2017 ◽  
Vol 2 ◽  
pp. AB015-AB015 ◽  
Author(s):  
Shea Ping Yip ◽  
Kim Hung Leung ◽  
Patrick Y. P. Kao ◽  
Maurice K. H. Yap
Keyword(s):  
Copy Number ◽  
High Myopia ◽  
Case Control Study ◽  
Case Control ◽  
Copy Number Variations ◽  
The Relationship ◽  
Control Study

scholarly journals Novel deletion of exon 3 in TYR gene causing Oculocutaneous albinism 1B in an Indian family along with intellectual disability associated with chromosomal copy number variations

2022 ◽  
Vol 15 (1) ◽  
Author(s):  
Somprakash Dhangar ◽  
Purvi Panchal ◽  
Jagdeeshwar Ghatanatti ◽  
Jitendra Suralkar ◽  
Anjali Shah ◽  
...  
Keyword(s):  
Intellectual Disability ◽  
Copy Number ◽  
Clinical Presentation ◽  
Array Cgh ◽  
Copy Number Variations ◽  
Oculocutaneous Albinism ◽  
Male Child ◽  
Heterozygous Deletion ◽  
Indian Family ◽  
Chromosomal Copy Number

Abstract Background Oculocutaneous albinism (OCA) is an autosomal recessive disorder characterized by hypo-pigmentation of skin, hair, and eyes. The OCA clinical presentation is due to a deficiency of melanin biosynthesis. Intellectual disability (ID) in OCA cases is a rare clinical presentation and appropriate diagnosis of ID is challenging through clinical examination. We report an Indian family with a rare co-inheritance of OCA1B and ID due to a novel TYR gene variant and chromosomal copy number variations. Methods We have done a study on three siblings (2 males and 1 female) of a family where all of them presented with hypopigmented skin, hair and eyes. The male children and their father was affected with ID. Targeted exome sequencing and multiplex ligation-dependent probe amplification analysis were carried out to identify the OCA1B and ID associated genomic changes. Further Array-CGH was performed using SurePrint G3 Human CGH + SNP, 8*60 K array. Results A rare homozygous deletion of exon 3 in TYR gene causing OCA1B was identified in all three children. The parents were found to be heterozygous carriers. The Array-CGH analysis revealed paternally inherited heterozygous deletion(1.9 MB) of 15q11.1-> 15q11.2 region in all three children. Additionally, paternally inherited heterozygous deletion(2.6 MB)of 10q23.2-> 10q23.31 region was identified in the first male child; this may be associated with ID as the father and the child both presented with ID. While the 2nd male child had a denovo duplication of 13q31.1-> 13q31.3 chromosomal region. Conclusion A rare homozygous TYR gene exon 3 deletion in the present study is the cause of OCA1B in all three children, and the additional copy number variations are associated with the ID. The study highlights the importance of combinational genetic approaches for diagnosing two different co-inherited disorders (OCA and ID). Hence, OCA cases with additional clinical presentation need to be studied in-depth forthe appropriate management of the disease.

scholarly journals A prenatal diagnosis and genetics study of five pedigrees in the Chinese population with Xp22.31 microduplication

2019 ◽  
Vol 12 (1) ◽  
Author(s):  
Jianlong Zhuang ◽  
Yuanbai Wang ◽  
Shuhong Zeng ◽  
Chunling Lv ◽  
Yiming Lin ◽  
...  
Keyword(s):  
High Risk ◽  
Copy Number ◽  
Chinese Population ◽  
Phenotypic Diversity ◽  
Copy Number Variants ◽  
Snp Array ◽  
Copy Number Variations ◽  
Serological Screening ◽  
X Chromosomes ◽  
Human Phenotype

Abstract Background Copy number variations (CNVs) can contribute to human phenotype, phenotypic diversity and disease susceptibility, while others may benign. In the current study, an attempt to investigate the pathogenicity of CNVs in chromosome Xp22.31 was explored. Methods G-banding and SNP-array techniques were used to analyze chromosome karyotypes and CNVs in fetuses. Parents associate with five different pedigrees possessing high risk factors in pregnancy were considered with such parameters as advanced age, high risk of serological screening and ultrasound abnormalities. Results The fetuses’ amniotic fluid karyotypes were 46, XX and those of their parents with the five pedigrees revealed no abnormalities. Here, we noticed a series of individuals with Xp22.31 duplications ranging from 534.6 kb to 1.6 Mb. It was detected through SNP array that the fetuses in Pedigree 1 and 2 had ~ 600 kb duplications in the Xp22.31 region of their X chromosomes which contained two OMIM genes, HDHD1 (OMIM: 306480) and part of STS (OMIM: 300747). The fetuses of Pedigrees 3, 4 and 5 had 1.6 Mb duplication in the same chromosome which contained four OMIM genes: HDHD1 (OMIM: 306480), STS (OMIM: 300747), PNPLA4 (OMIM: 300102) and VCX (OMIM: 300229). The duplications in the fetuses of Pedigrees 1 and 5 were inherited from the non-phenotypic parents. Pedigrees 3 and 4 refused to perform parental verification. Finally, four of the five pedigrees continue towards pregnancy with no abnormalities being observed during followed-ups. Conclusion Our study first showed duplications of Xp22.31 in Chinese population. Clinical and genetic investigation on five different pedigrees, we consider the duplication of these fragments as likely benign copy number variants (CNVs). We suggest that the duplications of Xp22.31 with recurrent duplication as a benign CNVs .

Array-based DNA copy number analysis for mullerian anomalies

2012 ◽  
Vol 98 (3) ◽  
pp. S12
Author(s):  
X.M. Santos ◽  
J. Bravo ◽  
X. Wang ◽  
I.B. Van den Veyver ◽  
J.E. Dietrich
Keyword(s):  
Copy Number ◽  
Copy Number Analysis ◽  
Dna Copy Number ◽  
Mullerian Anomalies ◽  
Müllerian Anomalies

scholarly journals A genome-wide screen for copy number alterations in an adolescent pilot cohort with müllerian anomalies

2015 ◽  
Vol 103 (2) ◽  
pp. 487-493 ◽  
Author(s):  
Jaclyn B. Murry ◽  
Xiomara M. Santos ◽  
Xiaoling Wang ◽  
Ying-Wooi Wan ◽  
Ignatia B. Van den Veyver ◽  
...  
Keyword(s):  
Copy Number ◽  
Copy Number Alterations ◽  
Mullerian Anomalies ◽  
Müllerian Anomalies ◽  
Genome Wide ◽  
A Genome
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