A Preterm Infant with Feeding Aspiration Diagnosed with BOR Syndrome, Confirmed Case by Whole-Genome Sequencing and Structural Variant Calling
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 premat...
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MDPI AG
2022-12-01
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| Series: | Children |
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| Online Access: | https://www.mdpi.com/2227-9067/10/1/76 |
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| author | Da Hyeon Kim Misun Yang Heui Seung Jo JongHo Park JaHyun Jang Sunghwan Shin SeHyung Son |
| author_facet | Da Hyeon Kim Misun Yang Heui Seung Jo JongHo Park JaHyun Jang Sunghwan Shin SeHyung Son |
| author_sort | Da Hyeon Kim |
| collection | DOAJ |
| description | 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 <i>EYA1</i> 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. |
| first_indexed | 2024-03-09T13:09:51Z |
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| institution | Directory Open Access Journal |
| issn | 2227-9067 |
| language | English |
| last_indexed | 2024-03-09T13:09:51Z |
| publishDate | 2022-12-01 |
| publisher | MDPI AG |
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| series | Children |
| spelling | doaj.art-a2a719111d3442169046609cc1c67e362023-11-30T21:43:25ZengMDPI AGChildren2227-90672022-12-011017610.3390/children10010076A Preterm Infant with Feeding Aspiration Diagnosed with BOR Syndrome, Confirmed Case by Whole-Genome Sequencing and Structural Variant CallingDa Hyeon Kim0Misun Yang1Heui Seung Jo2JongHo Park3JaHyun Jang4Sunghwan Shin5SeHyung Son6Department of Pediatrics, Samsung Medical Center, Seoul 06351, Republic of KoreaDepartment of Pediatrics, Samsung Medical Center, Seoul 06351, Republic of KoreaDepartment of Pediatrics, Samsung Medical Center, Seoul 06351, Republic of KoreaClinical Genomics Center, Samsung Medical Center, Seoul 06351, Republic of KoreaDepartment of Laboratory Medicine and Genetics, Samsung Medical Center, Seoul 06351, Republic of KoreaDepartment of Laboratory Medicine and Genetics, Samsung Medical Center, Seoul 06351, Republic of KoreaDepartment of Pediatrics, CHA Ilsan Medical Center, Goyang-si 10414, Republic of KoreaBranchiootorenal (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 <i>EYA1</i> 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.https://www.mdpi.com/2227-9067/10/1/76branchio-oto-renal syndromepreterm infantwhole-genome sequencing |
| spellingShingle | Da Hyeon Kim Misun Yang Heui Seung Jo JongHo Park JaHyun Jang Sunghwan Shin SeHyung Son A Preterm Infant with Feeding Aspiration Diagnosed with BOR Syndrome, Confirmed Case by Whole-Genome Sequencing and Structural Variant Calling Children branchio-oto-renal syndrome preterm infant whole-genome sequencing |
| title | A Preterm Infant with Feeding Aspiration Diagnosed with BOR Syndrome, Confirmed Case by Whole-Genome Sequencing and Structural Variant Calling |
| title_full | A Preterm Infant with Feeding Aspiration Diagnosed with BOR Syndrome, Confirmed Case by Whole-Genome Sequencing and Structural Variant Calling |
| title_fullStr | A Preterm Infant with Feeding Aspiration Diagnosed with BOR Syndrome, Confirmed Case by Whole-Genome Sequencing and Structural Variant Calling |
| title_full_unstemmed | A Preterm Infant with Feeding Aspiration Diagnosed with BOR Syndrome, Confirmed Case by Whole-Genome Sequencing and Structural Variant Calling |
| title_short | A Preterm Infant with Feeding Aspiration Diagnosed with BOR Syndrome, Confirmed Case by Whole-Genome Sequencing and Structural Variant Calling |
| title_sort | preterm infant with feeding aspiration diagnosed with bor syndrome confirmed case by whole genome sequencing and structural variant calling |
| topic | branchio-oto-renal syndrome preterm infant whole-genome sequencing |
| url | https://www.mdpi.com/2227-9067/10/1/76 |
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