Novel Mutation of Gene Observed in Congenital Chloride Diarrhea
Congenital chloride diarrhea (CLD) is a rare autosomal recessive disease caused by mutations in the solute carrier family 26 member 3 (SLC26A3) gene on chromosome 7q31. Affected neonates are vulnerable to dehydration, electrolyte imbalance in the form of hyponatremia, metabolic alkalosis, failure to...
| Main Authors: | , , |
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| Format: | Article |
| Language: | English |
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Korean Society of Neonatology
2023-08-01
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| Series: | Neonatal Medicine |
| Subjects: | |
| Online Access: | http://neo-med.org/upload/pdf/nm-2023-30-3-75.pdf |
| _version_ | 1797690863068905472 |
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| author | Ji Hye Cheon Na Li Yu Na Mi Lee |
| author_facet | Ji Hye Cheon Na Li Yu Na Mi Lee |
| author_sort | Ji Hye Cheon |
| collection | DOAJ |
| description | Congenital chloride diarrhea (CLD) is a rare autosomal recessive disease caused by mutations in the solute carrier family 26 member 3 (SLC26A3) gene on chromosome 7q31. Affected neonates are vulnerable to dehydration, electrolyte imbalance in the form of hyponatremia, metabolic alkalosis, failure to thrive, or even death if left untreated. Genetic testing for mutations should be considered if the clinical diagnosis remains uncertain because early diagnosis and appropriate management are critical to the disease course in CLD. Several mutations have been reported in Korean patients with CLD, with the most common being the c.2063-1G>T mutation. Here, we report the case of a neonate with prenatally suspected CLD with confirmed novel mutations in the SLC26A3 gene (c.2147C>G; p.Ala716Gly). |
| first_indexed | 2024-03-12T02:05:13Z |
| format | Article |
| id | doaj.art-718d6e81c24741fda5f3e61e95012d6d |
| institution | Directory Open Access Journal |
| issn | 2287-9412 2287-9803 |
| language | English |
| last_indexed | 2024-03-12T02:05:13Z |
| publishDate | 2023-08-01 |
| publisher | Korean Society of Neonatology |
| record_format | Article |
| series | Neonatal Medicine |
| spelling | doaj.art-718d6e81c24741fda5f3e61e95012d6d2023-09-07T05:15:32ZengKorean Society of NeonatologyNeonatal Medicine2287-94122287-98032023-08-01303757810.5385/nm.2023.30.3.751085Novel Mutation of Gene Observed in Congenital Chloride DiarrheaJi Hye Cheon0Na Li Yu1Na Mi Lee2 Department of Pediatrics, Chung-Ang University Hospital, Chung-Ang University College of Medicine, Seoul, Korea Department of Pediatrics, Chung-Ang University Gwangmyeong Hospital, Chung-Ang University College of Medicine, Gwangmyeong, Korea Department of Pediatrics, Chung-Ang University Gwangmyeong Hospital, Chung-Ang University College of Medicine, Gwangmyeong, KoreaCongenital chloride diarrhea (CLD) is a rare autosomal recessive disease caused by mutations in the solute carrier family 26 member 3 (SLC26A3) gene on chromosome 7q31. Affected neonates are vulnerable to dehydration, electrolyte imbalance in the form of hyponatremia, metabolic alkalosis, failure to thrive, or even death if left untreated. Genetic testing for mutations should be considered if the clinical diagnosis remains uncertain because early diagnosis and appropriate management are critical to the disease course in CLD. Several mutations have been reported in Korean patients with CLD, with the most common being the c.2063-1G>T mutation. Here, we report the case of a neonate with prenatally suspected CLD with confirmed novel mutations in the SLC26A3 gene (c.2147C>G; p.Ala716Gly).http://neo-med.org/upload/pdf/nm-2023-30-3-75.pdfcongenital chloride diarrheaslc26a3mutation |
| spellingShingle | Ji Hye Cheon Na Li Yu Na Mi Lee Novel Mutation of Gene Observed in Congenital Chloride Diarrhea Neonatal Medicine congenital chloride diarrhea slc26a3 mutation |
| title | Novel Mutation of Gene Observed in Congenital Chloride Diarrhea |
| title_full | Novel Mutation of Gene Observed in Congenital Chloride Diarrhea |
| title_fullStr | Novel Mutation of Gene Observed in Congenital Chloride Diarrhea |
| title_full_unstemmed | Novel Mutation of Gene Observed in Congenital Chloride Diarrhea |
| title_short | Novel Mutation of Gene Observed in Congenital Chloride Diarrhea |
| title_sort | novel mutation of gene observed in congenital chloride diarrhea |
| topic | congenital chloride diarrhea slc26a3 mutation |
| url | http://neo-med.org/upload/pdf/nm-2023-30-3-75.pdf |
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