Exome sequencing identifies novel ACE splice-site variant in a fetus with renal tubular dysgenesis

2018 ◽  
Vol 44 (12) ◽  
pp. 2181-2185
Author(s):  
Aneek Das Bhowmik ◽  
Ashwin Dalal ◽  
Ashwani Tandon ◽  
Shagun Aggarwal
Keyword(s):  
Exome Sequencing ◽  
Splice Site ◽  
Renal Tubular Dysgenesis ◽  
Splice Site Variant ◽  
Renal Tubular

Exome sequencing revealed a novel splice site variant in the ALX1 gene underlying frontonasal dysplasia

2016 ◽  
Vol 91 (3) ◽  
pp. 494-498 ◽  
Author(s):  
A. Ullah ◽  
U.‐E Kalsoom ◽  
M. Umair ◽  
P. John ◽  
M. Ansar ◽  
...  
Keyword(s):  
Exome Sequencing ◽  
Splice Site ◽  
Frontonasal Dysplasia ◽  
Splice Site Variant

scholarly journals Rapid Trio Exome Sequencing for Autosomal Recessive Renal Tubular Dysgenesis in Recurrent Oligohydramnios

2021 ◽  
Vol 12 ◽  
Author(s):  
Shin-Yu Lin ◽  
Gwo-Tsann Chuang ◽  
Chien-Hui Hung ◽  
Wei-Chou Lin ◽  
Yung-Ming Jeng ◽  
...  
Keyword(s):  
Exome Sequencing ◽  
Neonatal Death ◽  
Autosomal Recessive ◽  
Compound Heterozygous Mutation ◽  
Heterozygous Mutation ◽  
Compound Heterozygous ◽  
Early Neonatal Death ◽  
Renal Tubular Dysgenesis ◽  
Whole Exome ◽  
Renal Tubular

Oligohydramnios is not a rare prenatal finding. However, recurrent oligohydramnios is uncommon, and genetic etiology should be taken into consideration. We present two families with recurrent fetal oligohydramnios that did not respond to amnioinfusion. Rapid trio-whole-exome sequencing (WES) revealed mutations in the AGT gene in both families within 1 week. The first family had a compound heterozygous mutation with c.856 + 1G > T and c.857-619_1269 + 243delinsTTGCCTTGC changes. The second family had homozygous c.857-619_1269 + 243delinsTTGCCTTGC mutations. AGT gene mutation may lead to autosomal recessive renal tubular dysgenesis, a rare and lethal disorder that can result in early neonatal death. Both the alleles identified are known alleles associated with pathogenicity. Our findings suggest that trio-WES analysis may help rapidly identify causative etiologies that can inform prompt counseling and decision-making prenatally.

scholarly journals Exome sequencing reveals a novel homozygous splice site variant in the WNT1 gene underlying osteogenesis imperfecta type 3

2017 ◽  
Vol 82 (5) ◽  
pp. 753-758 ◽  
Author(s):  
Muhammad Umair ◽  
Bader Alhaddad ◽  
Afzal Rafique ◽  
Abid Jan ◽  
Tobias B Haack ◽  
...  
Keyword(s):  
Osteogenesis Imperfecta ◽  
Exome Sequencing ◽  
Splice Site ◽  
Osteogenesis Imperfecta Type ◽  
Splice Site Variant ◽  
Type 3

scholarly journals Exome sequencing reveals a novel splice site variant in HUWE1 gene in patients with suspected Say-Meyer syndrome

2020 ◽  
Vol 63 (1) ◽  
pp. 103635 ◽  
Author(s):  
Babylakshmi Muthusamy ◽  
Thong T. Nguyen ◽  
Aravind K. Bandari ◽  
Salah Basheer ◽  
Lakshmi Dhevi N. Selvan ◽  
...  
Keyword(s):  
Exome Sequencing ◽  
Splice Site ◽  
Splice Site Variant

scholarly journals Exome sequencing revealed a splice site variant in the IQCE gene underlying post-axial polydactyly type A restricted to lower limb

2017 ◽  
Vol 25 (8) ◽  
pp. 960-965 ◽  
Author(s):  
Muhammad Umair ◽  
Khadim Shah ◽  
Bader Alhaddad ◽  
Tobias B Haack ◽  
Elisabeth Graf ◽  
...  
Keyword(s):  
Exome Sequencing ◽  
Splice Site ◽  
Lower Limb ◽  
Type A ◽  
Splice Site Variant

scholarly journals Survival over 2 years of autosomal-recessive renal tubular dysgenesis

2012 ◽  
Vol 5 (1) ◽  
pp. 56-58 ◽  
Author(s):  
S. Y. Kim ◽  
H. G. Kang ◽  
E. K. Kim ◽  
J. H. Choi ◽  
Y. Choi ◽  
...  
Keyword(s):  
Autosomal Recessive ◽  
Renal Tubular Dysgenesis ◽  
Renal Tubular

scholarly journals A rare large duplication of MLH1 identified in Lynch syndrome

2021 ◽  
Vol 19 (1) ◽  
Author(s):  
Abhishek Kumar ◽  
Nagarajan Paramasivam ◽  
Obul Reddy Bandapalli ◽  
Matthias Schlesner ◽  
Tianhui Chen ◽  
...  
Keyword(s):  
Amino Acid ◽  
Lynch Syndrome ◽  
Splice Site ◽  
Stop Codon ◽  
Premature Stop Codon ◽  
Splice Donor Site ◽  
Laboratory Diagnostics ◽  
Mmr Genes ◽  
Base Pair Deletion ◽  
Splice Site Variant

Abstract Background The most frequently identified strong cancer predisposition mutations for colorectal cancer (CRC) are those in the mismatch repair (MMR) genes in Lynch syndrome. Laboratory diagnostics include testing tumors for immunohistochemical staining (IHC) of the Lynch syndrome-associated DNA MMR proteins and/or for microsatellite instability (MSI) followed by sequencing or other techniques, such as denaturing high performance liquid chromatography (DHPLC), to identify the mutation. Methods In an ongoing project focusing on finding Mendelian cancer syndromes we applied whole-exome/whole-genome sequencing (WES/WGS) to 19 CRC families. Results Three families were identified with a pathogenic/likely pathogenic germline variant in a MMR gene that had previously tested negative in DHPLC gene variant screening. All families had a history of CRC in several family members across multiple generations. Tumor analysis showed loss of the MMR protein IHC staining corresponding to the mutated genes, as well as MSI. In family A, a structural variant, a duplication of exons 4 to 13, was identified in MLH1. The duplication was predicted to lead to a frameshift at amino acid 520 and a premature stop codon at amino acid 539. In family B, a 1 base pair deletion was found in MLH1, resulting in a frameshift and a stop codon at amino acid 491. In family C, we identified a splice site variant in MSH2, which was predicted to lead loss of a splice donor site. Conclusions We identified altogether three pathogenic/likely pathogenic variants in the MMR genes in three of the 19 sequenced families. The MLH1 variants, a duplication of exons 4 to 13 and a frameshift variant, were novel, based on the InSiGHT and ClinVar databases; the MSH2 splice site variant was reported by a single submitter in ClinVar. As a variant class, duplications have rarely been reported in the MMR gene literature, particularly those covering several exons.

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