Dataset Information

A Preterm Infant with Feeding Aspiration Diagnosed with BOR Syndrome, Confirmed Case by Whole-Genome Sequencing and Structural Variant Calling.

ABSTRACT: Branchiootorenal (BOR) syndrome is a rare autosomal dominant inherited disease with a prevalence of approximately 1 in 40,000 newborns. This disease is characterized by hearing loss, preauricular pits, branchial fistulas or cysts, and renal dysplasia. We discovered a case of BOR syndrome in a premature 2-week-old female infant with a gestational age of 32 weeks and two days. She and her family had major symptoms and a family history of BOR. BOR syndrome was confirmed by whole-genome sequencing and structural variant calling, which revealed an EYA1 exon 5-6 deletion. The infant had recurrent sleep and feeding cyanosis with second branchial anomalies. Via videofluoroscopic swallowing study and a modified barium swallow test, penetration into the vocal cords was observed before and during swallowing when bottle feeding. This is the first report of a preterm infant early diagnosed with BOR syndrome in which deletion margin was accurately identified by whole-genome sequencing and structural variant calling in Republic of Korea.

SUBMITTER: Kim DH

PROVIDER: S-EPMC9856635 | biostudies-literature | 2022 Dec

REPOSITORIES: biostudies-literature

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A Preterm Infant with Feeding Aspiration Diagnosed with BOR Syndrome, Confirmed Case by Whole-Genome Sequencing and Structural Variant Calling.

Kim Da Hyeon DH Yang Misun M Jo Heui Seung HS Park JongHo J Jang JaHyun J Shin Sunghwan S Son SeHyung S

Children (Basel, Switzerland) 20221230 1

Branchiootorenal (BOR) syndrome is a rare autosomal dominant inherited disease with a prevalence of approximately 1 in 40,000 newborns. This disease is characterized by hearing loss, preauricular pits, branchial fistulas or cysts, and renal dysplasia. We discovered a case of BOR syndrome in a premature 2-week-old female infant with a gestational age of 32 weeks and two days. She and her family had major symptoms and a family history of BOR. BOR syndrome was confirmed by whole-genome sequencing a ...[more]

PMID: 36670626

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Project description:BackgroundThe last two human genome assemblies have extended the previous linear golden-path paradigm of the human genome to a graph-like model to better represent regions with a high degree of structural variability. The new model offers opportunities to improve the technical validity of variant calling in whole-genome sequencing (WGS).MethodsWe developed an algorithm that analyzes the patterns of variant calls in the 178 structurally variable regions of the GRCh38 genome assembly, and infers whether a given sample is most likely to contain sequences from the primary assembly, an alternate locus, or their heterozygous combination at each of these 178 regions. We investigate 121 in-house WGS datasets that have been aligned to the GRCh37 and GRCh38 assemblies.ResultsWe show that stretches of sequences that are largely but not entirely identical between the primary assembly and an alternate locus can result in multiple variant calls against regions of the primary assembly. In WGS analysis, this results in characteristic and recognizable patterns of variant calls at positions that we term alignable scaffold-discrepant positions (ASDPs). In 121 in-house genomes, on average 51.8±3.8 of the 178 regions were found to correspond best to an alternate locus rather than the primary assembly sequence, and filtering these genomes with our algorithm led to the identification of 7863 variant calls per genome that colocalized with ASDPs. Additionally, we found that 437 of 791 genome-wide association study hits located within one of the regions corresponded to ASDPs.ConclusionsOur algorithm uses the information contained in the 178 structurally variable regions of the GRCh38 genome assembly to avoid spurious variant calls in cases where samples contain an alternate locus rather than the corresponding segment of the primary assembly. These results suggest the great potential of fully incorporating the resources of graph-like genome assemblies into variant calling, but also underscore the importance of developing computational resources that will allow a full reconstruction of the genotype in personal genomes. Our algorithm is freely available at https://github.com/charite/asdpex .

Project description:BackgroundPreterm infants have difficulty maintaining engagement throughout early oral feedings, which can lead to less efficient feeding and prolonged feeding skill development.ObjectiveTo examine contributions of the infant, mother, and feeding context to infant engagement during bottle-feeding.MethodsBottle-feedings of very-low-birthweight infants (n = 22) by their mothers were observed. Infant and maternal behaviors were coded and synchronized with physiologic measures. At completion of the feeding, the mothers were interviewed, and their working model of feeding coregulation was scored. Feedings were subdivided into feeding episodes (n = 114). Using multilevel linear regression analyses, four dyadic characteristics (working model of the caregiver's role as coregulator, birthweight, postconceptional age, baseline oxygen saturation) and five episode characteristics (readiness at episode onset, episode baseline oxygen saturation, mean oxygen saturation during the episode, maternal feeding behavior, and phase of feeding) were examined as potential predictors of feeding episode engagement.ResultsConditions observed during the feeding observation explained most of the variation in engagement. Engagement was more likely to occur during the early phase of feeding (p <.05), during feeding episodes that began with infant readiness (p <.05), and during feeding episodes with higher mean oxygen saturation during the episode (p <.05). Feeding episodes with less jiggling of the nipple had a significantly greater amount of engagement (p <.05).ConclusionsThe ability of the preterm infant to maintain engagement during bottle-feeding cannot be explained by characteristics of the infant or by the prefeeding condition of the infant alone. Rather, engagement is coregulated by the caregiver and the infant throughout the feeding. Strategies to assist infants in maintaining physiologic stability during bottle-feeding and further study of effective and contingent caregiver feeding behaviors are needed.

Project description:BackgroundAlthough the survival rate of very preterm infants has improved, rates of subsequent neurobehavioral disabilities remain high. One factor implicated in poor neurobehavioral and developmental outcomes is hospitalization and inconsistent caregiving patterns in the neonatal intensive care unit. Although much underlying brain damage occurs in utero or shortly after birth, neuroprotective strategies may stop progression of damage, particularly when these strategies are used during the most sensitive periods of neural plasticity 2-3 months before term age.ObjectiveThe purpose of this analysis was to test the effect of a patterned feeding experience involving a tactile component (touch and/or holding) provided during feedings on preterm infants' clinical outcomes, measured by oral feeding progress, as an early indicator of neurodevelopment.MethodsWe used an experimental, longitudinal, two-group random assignment design. Preterm infants (n = 120) were enrolled within the first week of life and randomized to an experimental group receiving a patterned feeding experience or to a control group receiving usual feeding care.ResultsAnalysis of data from 91 infants showed that infants receiving touch at more than 25% of early gavage feedings achieved full oral feeding more quickly; as touch exposure increased, time from first oral to full oral feeding decreased. There was no association between holding during early gavage feedings or touch during transition feedings and time to full oral feeding.DiscussionNeurological expectation during critical periods of development is important for infants. However, a preterm infant's environment is not predictable: Caregivers change regularly, medical procedures dictate touch and holding, and care provision based on infant cues is limited. Current knowledge supports caregiving that occurs with a naturally occurring sensation (i.e., hunger), is provided in a manner that is congruent with the expectation of the neurological system, and occurs with enough regularity to enhance neuronal and synaptic development. In this study, we modeled an experience infants would "expect" if they were not in the neonatal intensive care unit and demonstrated a shorter time from first oral feeding to full oral feeding, an important clinical outcome with neurodevelopmental implications. We recommend further research to determine the effect of patterned caregiving experiences on other areas of neurodevelopment, particularly those that may occur later in life.

Dataset Information

A Preterm Infant with Feeding Aspiration Diagnosed with BOR Syndrome, Confirmed Case by Whole-Genome Sequencing and Structural Variant Calling.

Publications

A Preterm Infant with Feeding Aspiration Diagnosed with BOR Syndrome, Confirmed Case by Whole-Genome Sequencing and Structural Variant Calling.

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