scholarly journals Autosomal-Dominant Microtia Linked to Five Tandem Copies of a Copy-Number-Variable Region at Chromosome 4p16

2008 ◽  
Vol 82 (1) ◽  
pp. 181-187 ◽  
Author(s):  
Irina Balikova ◽  
Kevin Martens ◽  
Cindy Melotte ◽  
Mustapha Amyere ◽  
Steven Van Vooren ◽  
...  
Keyword(s):  
Copy Number ◽  
Autosomal Dominant ◽  
Variable Region ◽  
Copy Number Variable Region ◽  
Chromosome 4P16

scholarly journals MicroRNA-650 in a copy number-variable region regulates the production of interleukin 6 in human osteosarcoma cells

2015 ◽  
Vol 10 (4) ◽  
pp. 2603-2609 ◽  
Author(s):  
JUN HO YUN ◽  
SANGHOON MOON ◽  
HEUN-SIK LEE ◽  
MI YEONG HWANG ◽  
YEON-JUNG KIM ◽  
...  
Keyword(s):  
Interleukin 6 ◽  
Copy Number ◽  
Variable Region ◽  
Osteosarcoma Cells ◽  
Copy Number Variable Region ◽  
Human Osteosarcoma ◽  
Human Osteosarcoma Cells

scholarly journals Copy number variation in MODY diabetes - Familial case presentation

2018 ◽  
Vol 2 (2) ◽  
pp. 73
Author(s):  
Naida Lojo-Kadric ◽  
Zelija Velija Asimi ◽  
Jasmin Ramic ◽  
Ksenija Radic ◽  
Lejla Pojskic
Keyword(s):  
Insulin Secretion ◽  
Copy Number ◽  
Autosomal Dominant ◽  
Single Gene ◽  
Maturity Onset Diabetes ◽  
Dominant Form ◽  
Case Presentation ◽  
Monogenic Diseases ◽  
Number Variation ◽  
Autosomal Dominant Form

MODY (maturity-onset diabetes of the young) is an autosomal dominant form of diabetes that is usually manifested before the 25-year of life. This type of diabetes is caused by defects in the primary insulin secretion. There are several types of MODY, which are monogenic diseases, where mutations in a single gene are responsible for a particular type of MODY. Currently, there are eleven types of MODY, from which the most common types are MODY 2 and MODY 3 (with mutations on GCK and HNF1A genes, respectively). We identified very rare MODY 7 type of diabetes in three family members by MLPA analysis.

Identification of a Novel Copy Number Variation of EYA4 Causing Autosomal Dominant Non-Syndromic Hearing Loss

2021 ◽  
Vol Publish Ahead of Print ◽  
Author(s):  
Takashi Ishino ◽  
Yui Ogawa ◽  
Toru Sonoyama ◽  
Takayuki Taruya ◽  
Takashi Kono ◽  
...  
Keyword(s):  
Hearing Loss ◽  
Copy Number Variation ◽  
Copy Number ◽  
Autosomal Dominant ◽  
Number Variation ◽  
Syndromic Hearing Loss

scholarly journals A novel familial PHP1B variant with incomplete loss-of-methylation at GNAS-A/B and enhanced methylation at GNAS-AS2

2021 ◽  
Author(s):  
Patrick Hanna ◽  
Bruno Francou ◽  
Brigitte Delemer ◽  
Harald Jüppner ◽  
Agnès Linglart
Keyword(s):  
Copy Number ◽  
Genomic Dna ◽  
Autosomal Dominant ◽  
Differentially Methylated Region ◽  
Genetic Defects ◽  
The Novel ◽  
Single Family ◽  
Maternal Allele ◽  
Transcription Start ◽  
Renal Tubular

Abstract Context Pseudohypoparathyroidism type 1B (PHP1B), also referred to as inactivating PTH/PTHrP Signaling Disorder (iPPSD), is characterized by proximal renal tubular resistance to parathyroid hormone (PTH) leading to hypocalcemia, hyperphosphatemia and elevated PTH values. Autosomal dominant PHP1B (AD-PHP1B) with loss-of-methylation at the maternal GNAS A/B:TSS-DMR (transcription start site-differentially methylated region) alone can be caused by maternal deletions involving STX16. Objectives Characterize a previously not reported AD-PHP1B family with loss-of-methylation at GNAS A/B:TSS-DMR, but without evidence for a STX16 deletion on the maternal allele and assess GNAS-AS2:TSS-DMR methylation. Patients and methods DNAs from 24 patients and 10 controls were investigated. AD-PHP1B patients without STX16 deletion from a single family (n=3), AD-PHP1B patients with STX16 deletion (n=9), sporPHP1B (n=10), unaffected controls (n=10), patUPD20 (n=1), and matUPD20 (n=1). Methylation and copy number analyses were performed by pyrosequencing, MS-MPLA, and MLPA, respectively. Results Molecular cloning of PCR-amplified, bisulfite-treated genomic DNA from healthy controls revealed evidence for two distinct GNAS-AS2:TSS-DMR subdomains, named AS2-1 and AS2-2, which showed 16.0±2.3% and 31.0±2.2% methylation, respectively. DNA from affected members of a previously not reported AD-PHP1B family without the known genetic defects revealed incomplete LOM (loss-of-methylation) at GNAS A/B:TSS-DMR, normal methylation at the three well-established maternal and paternal DMRs, and, surprisingly, increased methylation at AS2-1 (32.9±3.5%), but not at AS2-2 (30.5±2.9%). Conclusion The distinct methylation changes at the novel GNAS-AS2:TSS-DMR will help characterize further different PHP1B/iPPSD3 variants and will guide the search for underlying genetic defects, which may provide novel insights into the mechanisms underlying GNAS methylation.

scholarly journals Identification of Novel Copy Number Variations of VCAN Gene in Three Chinese Families with Wagner Disease

Genes ◽  
2020 ◽  
Vol 11 (9) ◽  
pp. 992
Author(s):  
Songshan Li ◽  
Mengke Li ◽  
Limei Sun ◽  
Xiujuan Zhao ◽  
Ting Zhang ◽  
...  
Keyword(s):  
Copy Number ◽  
Visual Loss ◽  
Autosomal Dominant ◽  
Polymerase Chain Reaction Analysis ◽  
Copy Number Variations ◽  
Chondroitin Sulfate Proteoglycan ◽  
Chain Reaction ◽  
Chinese Families ◽  
Intron Boundary ◽  
Polymerase Chain

The VCAN/versican gene encodes an important component of the extracellular matrix, the chondroitin sulfate proteoglycan 2 (CSPG2/versican). Heterozygous variants targeting exon 8 of VCAN have been shown to cause Wagner disease, a rare autosomal dominant non-syndromic vitreoretinopathy that induces retinal detachment, cataracts and permanent visual loss. In this study, we report on six patients from three unrelated families with Wagner disease in whom we identified three novel copy number variations of VCAN. Quantitative real-time polymerase chain reaction analysis identified deletions, including one exon–intron boundary of exon 8 or both exons 8 and 9, causing the haploinsufficiency of VCAN mRNAs.

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