exome analysis
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Author(s):  
Dong Li ◽  
Helen Downes ◽  
Cuiping Hou ◽  
Hakon Hakonarson ◽  
Elaine H. Zackai ◽  
...  

2021 ◽  
Vol 11 (1) ◽  
Author(s):  
Barbara Iadarola ◽  
Denise Lavezzari ◽  
Alessandra Modi ◽  
Chiara Degli Esposti ◽  
Cristina Beltrami ◽  
...  

AbstractMummified remains of relevant historical figures are nowadays an important source of information to retrace data concerning their private life and health, especially when historical archives are not available. Next-generation-sequencing was proved to be a valuable tool to unravel the characteristics of these individuals through their genetic heritage. Using the strictest criteria currently available for the validation of ancient DNA sequences, whole-genome and whole-exome sequencing were generated from the mummy remains of an Italian nobleman died almost 700 years ago, Cangrande della Scala. While its genome sequencing could not yield sufficient coverage for in depth investigation, exome sequencing could overcome the limitations of this approach to achieve significantly high coverage on coding regions, thus allowing to perform the first extensive exome analysis of a mummy genome. Similar to a standard “clinical exome analysis” conducted on modern DNA, an in-depth variant annotation, high-quality filtering and interpretation was performed, leading to the identification of a genotype associated with late-onset Pompe disease (glycogen storage disease type II). This genetic diagnosis was concordant with the limited clinical history available for Cangrande della Scala, who likely represents the earliest known case of this autosomal recessive metabolic disorder.


Author(s):  
Elena V. Filatova ◽  
Natalia S. Krylova ◽  
Ivan N. Vlasov ◽  
Maria S. Maslova ◽  
Natalia G. Poteshkina ◽  
...  

2021 ◽  
Vol 22 (18) ◽  
pp. 9929
Author(s):  
Luisa Jasper ◽  
Pasquale Scarcia ◽  
Stephan Rust ◽  
Janine Reunert ◽  
Ferdinando Palmieri ◽  
...  

SLC25A36 is a pyrimidine nucleotide carrier playing an important role in maintaining mitochondrial biogenesis. Deficiencies in SLC25A36 in mouse embryonic stem cells have been associated with mtDNA depletion as well as mitochondrial dysfunction. In human beings, diseases triggered by SLC25A36 mutations have not been described yet. We report the first known case of SLC25A36 deficiency in a 12-year-old patient with hypothyroidism, hyperinsulinism, hyperammonemia, chronical obstipation, short stature, along with language and general developmental delay. Whole exome analysis identified the homozygous mutation c.803dupT, p.Ser269llefs*35 in the SLC25A36 gene. Functional analysis of mutant SLC25A36 protein in proteoliposomes showed a virtually abolished transport activity. Immunoblotting results suggest that the mutant SLC25A36 protein in the patient undergoes fast degradation. Supplementation with oral uridine led to an improvement of thyroid function and obstipation, increase of growth and developmental progress. Our findings suggest an important role of SLC25A36 in hormonal regulations and oral uridine as a safe and effective treatment.


Author(s):  
Kushani Jayasinghe ◽  
You Wu ◽  
Zornitza Stark ◽  
Peter G. Kerr ◽  
Andrew J. Mallett ◽  
...  

2021 ◽  
Vol 8 (1) ◽  
Author(s):  
Junya Adachi ◽  
Yoshihiko Aoki ◽  
Tadashi Tatematsu ◽  
Hiroki Goto ◽  
Atsuo Nakayama ◽  
...  

Congenital tooth agenesis is a common anomaly in humans. We investigated the etiology of human tooth agenesis by exome analysis in Japanese patients, and found a previously undescribed heterozygous deletion (NM_002448.3(MSX1_v001):c.433_449del) in the first exon of the MSX1 gene. The deletion leads to a frameshift and generates a premature termination codon. The truncated form of MSX1, namely, p.(Trp145Leufs*24) lacks the homeodomain, which is crucial for transcription factor function.


2021 ◽  
Author(s):  
Barbara Iadarola ◽  
Denise Lavezzari ◽  
Alessandra Modi ◽  
Chiara Degli Esposti ◽  
Cristina Beltrami ◽  
...  

Mummified remains of relevant historical figures are nowadays an important source of information to retrace data concerning their private life and health, especially when historical archives are not available. Next-generation-sequencing was proved to be a valuable tool to unravel the characteristics of these individuals through their genetic heritage. Using the strictest criteria currently available for the validation of ancient DNA sequences, whole-genome and whole-exome sequencing were generated from the mummy remains of an Italian nobleman died almost 700 years ago, Cangrande della Scala. While its genome sequencing could not yield sufficient coverage for in depth investigation, exome sequencing could overcome the limitations of this approach to achieve significantly high coverage on coding regions, thus allowing to perform the first extensive exome analysis of a mummy genome. Similar to a standard "clinical exome analysis" conducted on modern DNA, an in-depth variant annotation, high-quality filtering and interpretation was performed, leading to the identification of a genotype associated with late-onset Pompe disease (glycogen storage disease type II). This genetic diagnosis was concordant with the limited clinical history available for Cangrande della Scala, who likely represents the earliest known case of this autosomal recessive metabolic disorder.


2021 ◽  
Author(s):  
Sascha Meyer ◽  
Gabriele Meyberg-Solomayer ◽  
Rainer König ◽  
Sinje Geuer ◽  
Martina Geipel ◽  
...  

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