Abstract Background/objectives Acute pancreatitis (AP) is emerging in pediatrics. A subset of children with AP progresses to acute recurrent pancreatitis (ARP) and chronic pancreatitis (CP). The role of extensive gene testing in the progression has not been investigated previously. We have followed children enrolled in the registry and at our center for progression to ARP and CP after the first attack. Methods This study utilizes an extensive gene sequencing panel as a platform to evaluate the r...
(Oregon National Primate Research Center), Jun Wu28
Estimated H-index: 28
(Salk Institute for Biological Studies)+ 27 AuthorsYeonmi Lee6
Estimated H-index: 6
(Oregon National Primate Research Center)
Change history In this Letter, there are several errors regarding the assignments of mtDNA haplotypes for a subset of egg donors from our study. These errors have not been corrected online.
(Cincinnati Children's Hospital Medical Center)+ 14 AuthorsJenice Brown2
Estimated H-index: 2
(Cincinnati Children's Hospital Medical Center)
In Luo et al. (1), we report the transmission of paternal mtDNA in 17 individuals across three unrelated families. In their letter responding to this paper, Lutz-Bonengel et al. (2) argue that these results do not provide sufficient evidence for paternal inheritance of mtDNA. Instead, they propose that these biparental inheritance events are the result of “nuclear elements of mtDNA” [(numts), or nuclear mtDNA segments (NUMTs)]. Although rare, nearly full-length mtDNA insertions have been occasio...
(Cincinnati Children's Hospital Medical Center)+ 14 AuthorsSarah Dell2
Estimated H-index: 2
(Cincinnati Children's Hospital Medical Center)
Although there has been considerable debate about whether paternal mitochondrial DNA (mtDNA) transmission may coexist with maternal transmission of mtDNA, it is generally believed that mitochondria and mtDNA are exclusively maternally inherited in humans. Here, we identified three unrelated multigeneration families with a high level of mtDNA heteroplasmy (ranging from 24 to 76%) in a total of 17 individuals. Heteroplasmy of mtDNA was independently examined by high-depth whole mtDNA sequencing an...
Hearing loss is the most common birth defect and sensorineural disorder in humans. Hearing loss can be syndromic or nonsyndromic and can be further divided based on mode of inheritance. With over 100 genes responsible for the etiology of hearing loss, Sanger sequencing, being a traditional gene-by-gene approach, has become an unfavorable strategy in terms of cost and time. Next-generation sequencing technology offers the advantage of sequencing multiple genes in parallel with lower cost and high...