scholarly journals Whole‐exome sequencing identifies a donor splice‐site variant in SMPX that causes rare X‐linked congenital deafness

2019 ◽  
Vol 7 (11) ◽  
Author(s):  
Yuan Lv ◽  
Jia Gu ◽  
Hao Qiu ◽  
Huan Li ◽  
Zhitao Zhang ◽  
...  
Keyword(s):  
Exome Sequencing ◽  
Whole Exome Sequencing ◽  
Splice Site ◽  
Donor Splice Site ◽  
Congenital Deafness ◽  
Donor Splice ◽  
Whole Exome ◽  
Splice Site Variant

scholarly journals Striking Cardiac Phenotypic Variability in A Chinese Family With A MYH7 Splice Site Mutation

2021 ◽  
Author(s):  
Peng Tu ◽  
Hairui Sun ◽  
Xiaohang Zhang ◽  
Qian Ran ◽  
suzhen Ran ◽  
...  
Keyword(s):  
Exome Sequencing ◽  
Whole Exome Sequencing ◽  
Splice Site ◽  
Phenotypic Variability ◽  
Splice Site Mutation ◽  
Left Ventricular ◽  
Chinese Family ◽  
Site Mutation ◽  
Cardiac Phenotype ◽  
Whole Exome

Abstract Background: Left ventricular non-compaction cardiomyopathy (LVNC) is a rare congenital heart defect (CHD), genetics defects have been found in patients with LVNC and their family members; and MYH7 is the most common genetic associated with LVNC. Methods: A trio (fetus and the parents) whole-exome sequencing (WES) was performed when the fetus was found with Ebstein's anomaly (EA), heart dilatation, perimembranous ventricular septal defects (VSD), mild seroperitoneum and single umbilical artery (SUA).Results: Whole-exome sequencing identified a maternal inherited heterozygous splice site mutation in MYH7 (NM_000257.3:c.732+1G>A). Subsequent Sanger sequencing confirmed that the mutation was heterozygous in the fetus, the old sister, the grandmother, and the mother. QPCR experiment using RNA from blood lymphocytes but were unable to amplify any product.Conclusion: This familial case underlines that the striking cardiac phenotypic of MYH7 mutation (the c.732+1G>A spice site variant) may be highly variable. The mechanistic studies which could uncover candidate genes modulating cardiac phenotype associated with LVNC/EA should be proceed.

scholarly journals Whole Exome Sequencing Reveals Novel PHEX Splice Site Mutations in Patients with Hypophosphatemic Rickets

PLoS ONE ◽  
2015 ◽  
Vol 10 (6) ◽  
pp. e0130729 ◽  
Author(s):  
Sara L. Ma ◽  
Virginia Vega-Warner ◽  
Christopher Gillies ◽  
Matthew G. Sampson ◽  
Vijay Kher ◽  
...  
Keyword(s):  
Exome Sequencing ◽  
Whole Exome Sequencing ◽  
Splice Site ◽  
Hypophosphatemic Rickets ◽  
Whole Exome

scholarly journals Whole-Exome Sequencing Identifies an Intronic Cryptic Splice Site in SERPINF1 Causing Osteogenesis Imperfecta Type VI

JBMR Plus ◽  
2018 ◽  
Vol 2 (4) ◽  
pp. 235-239 ◽  
Author(s):  
Zixue Jin ◽  
Lindsay C Burrage ◽  
Ming-Ming Jiang ◽  
Yi-Chien Lee ◽  
Terry Bertin ◽  
...  
Keyword(s):  
Osteogenesis Imperfecta ◽  
Exome Sequencing ◽  
Whole Exome Sequencing ◽  
Splice Site ◽  
Osteogenesis Imperfecta Type ◽  
Cryptic Splice Site ◽  
Whole Exome

scholarly journals Germline whole exome sequencing of a family with appendiceal mucinous tumours presenting with pseudomyxoma peritonei

2019 ◽  
Author(s):  
Mei Sim Lung ◽  
Catherine A. Mitchell ◽  
Maria A. Doyle ◽  
Andrew C. Lynch ◽  
Kylie L. Gorringe ◽  
...  
Keyword(s):  
Exome Sequencing ◽  
Whole Exome Sequencing ◽  
Splice Site ◽  
Pseudomyxoma Peritonei ◽  
Loss Of Function ◽  
Site Mutation ◽  
Germline Variants ◽  
Missense Variants ◽  
Whole Exome ◽  
Mucinous Tumours

Abstract Background Familial cases of appendiceal mucinous tumours (AMTs) are extremely rare and the underlying genetic aetiology uncertain. We identified potential predisposing germline genetic variants in a father and daughter with AMTs presenting with pseudomyxoma peritonei (PMP) and correlated these with regions of loss of heterozygosity (LOH) in the tumours. Materials and Methods Through germline whole exome sequencing, we identified novel heterozygous loss-of-function (LoF) (i.e. nonsense, frameshift and essential splice site mutations) and missense variants shared between father and daughter, and validated all LoF variants, and missense variants with a Combined Annotation Dependent Depletion (CADD) scaled score of ≥10. Genome-wide copy number analysis was performed on tumour tissue from both individuals to identify regions of LOH. Results Seventeen novel variants in 17 genes were shared by the father and daughter: a nonsense mutation in REEP5 , an essential splice site mutation in THOP1 , and 15 missense variants. None of these germline variants were located in tumour regions of LOH shared by the father and daughter. Four genes ( EXOG , RANBP2, RANBP6 and TNFRSF1B ) harboured missense variants that fell in a region of LOH in the tumour from the father only, but none showed somatic loss of the wild type allele in the tumour. The REEP5 gene was sequenced in 23 individuals with presumed sporadic PMP; no LoF or rare missense germline variants were identified. Conclusion Germline exome sequencing of a father and daughter with AMTs identified novel candidate predisposing genes. Further studies are required to clarify the role of these genes in familial AMTs.

scholarly journals Novel splice-site mutation inWDR62revealed by whole-exome sequencing in a Sudanese family with primary microcephaly

2016 ◽  
Vol 56 (3) ◽  
pp. 135-137 ◽  
Author(s):  
Fatma Bastaki ◽  
Madiha Mohamed ◽  
Pratibha Nair ◽  
Fatima Saif ◽  
Nafisa Tawfiq ◽  
...  
Keyword(s):  
Exome Sequencing ◽  
Whole Exome Sequencing ◽  
Splice Site ◽  
Splice Site Mutation ◽  
Primary Microcephaly ◽  
Site Mutation ◽  
Whole Exome

scholarly journals A novel SPINK5 donor splice site variant in a child with Netherton syndrome

2021 ◽  
Author(s):  
Dillon Mintoff ◽  
Isabella Borg ◽  
Julia Vornweg ◽  
Liam Mercieca ◽  
Rijad Merdzanic ◽  
...  
Keyword(s):  
Splice Site ◽  
Donor Splice Site ◽  
Netherton Syndrome ◽  
Donor Splice ◽  
Splice Site Variant

scholarly journals A protocol for whole-exome sequencing in newborns with congenital deafness: a prospective population-based cohort

2017 ◽  
Vol 1 (1) ◽  
pp. e000119 ◽  
Author(s):  
Lilian Downie ◽  
Jane L Halliday ◽  
Rachel A Burt ◽  
Sebastian Lunke ◽  
Elly Lynch ◽  
...  
Keyword(s):  
Exome Sequencing ◽  
Whole Exome Sequencing ◽  
Population Based ◽  
Congenital Deafness ◽  
Whole Exome

Whole exome sequencing identifies a novel splice-site mutation in IMPG2 gene causing Stargardt-like juvenile macular dystrophy in a north Indian family

Gene ◽  
2022 ◽  
pp. 146158
Author(s):  
Souradip Chatterjee ◽  
Shashank Gupta ◽  
Vidya Nair Chaudhry ◽  
Prashaant Chaudhry ◽  
Ashim Mukherjee ◽  
...  
Keyword(s):  
Exome Sequencing ◽  
Whole Exome Sequencing ◽  
Splice Site ◽  
Splice Site Mutation ◽  
Macular Dystrophy ◽  
Site Mutation ◽  
Indian Family ◽  
Whole Exome

Identification of a novel splice site HSPG2 mutation and prenatal diagnosis in Schwartz Jampel Syndrome type 1 using whole exome sequencing

2016 ◽  
Vol 26 (11) ◽  
pp. 809-814 ◽  
Author(s):  
Aneek Das Bhowmik ◽  
Ashwin Dalal ◽  
Divya Matta ◽  
Rukmini M. Kandadai ◽  
Meena A. Kanikannan ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
Exome Sequencing ◽  
Whole Exome Sequencing ◽  
Splice Site ◽  
Syndrome Type ◽  
Whole Exome
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