Transient neonatal diabetes mellitus with macroglossia diagnosed by methylation specific PCR (MS-PCR)
Transient neonatal diabetes mellitus (TNDM) has been associated with paternal uniparental isodisomy of chromosome 6, paternally inherited duplication of 6q24, or a methylation defect at a CpG island of the ZAC or HYMAI gene. We experienced a case of TNDM in which the patient presented with hyperglyc...
| Main Authors: | , , , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
Korean Pediatric Society
2010-03-01
|
| Series: | Korean Journal of Pediatrics |
| Online Access: | http://www.kjp.or.kr/upload/2010530322-20100443174543.PDF |
| _version_ | 1828281852558835712 |
|---|---|
| author | Hye Young Jin Jin-Ho Choi Gu-Hwan Kim Han-Wook Yoo |
| author_facet | Hye Young Jin Jin-Ho Choi Gu-Hwan Kim Han-Wook Yoo |
| author_sort | Hye Young Jin |
| collection | DOAJ |
| description | Transient neonatal diabetes mellitus (TNDM) has been associated with paternal uniparental isodisomy of chromosome 6, paternally inherited duplication of 6q24, or a methylation defect at a CpG island of the ZAC or HYMAI gene. We experienced a case of TNDM in which the patient presented with hyperglycemia, macroglossia, and intrauterine growth retardation, caused by a paternally derived HYMAI. An 18-day-old female infant was admitted to the hospital because of macroglossia and recurrent hyperglycemia. In addition to the macroglossia, she also presented with large fontanelles, micrognathia, and prominent eyes. Serum glucose levels were 200–300 mg/dL and they improved spontaneously 2 days after admission. To identify the presence of a maternal methylated allele, bisulfite-treated genomic DNA from peripheral blood was prepared and digested with BssHII after polymerase chain reaction (PCR) amplification with methylation-specific HYMAI primers. PCR and restriction fragment length polymorphism analysis showed that the patient had only the paternal origin of the HYMA1 gene. TNDM is associated with a methylation defect in chromosome 6, suggesting that an imprinted gene on chromosome 6 is responsible for this phenotype. |
| first_indexed | 2024-04-13T08:21:57Z |
| format | Article |
| id | doaj.art-041fef09a4ac4e9ca09e8bf20f0cf7cd |
| institution | Directory Open Access Journal |
| issn | 1738-1061 2092-7258 |
| language | English |
| last_indexed | 2024-04-13T08:21:57Z |
| publishDate | 2010-03-01 |
| publisher | Korean Pediatric Society |
| record_format | Article |
| series | Korean Journal of Pediatrics |
| spelling | doaj.art-041fef09a4ac4e9ca09e8bf20f0cf7cd2022-12-22T02:54:37ZengKorean Pediatric SocietyKorean Journal of Pediatrics1738-10612092-72582010-03-0153343243610.3345/kjp.2010.53.3.432Transient neonatal diabetes mellitus with macroglossia diagnosed by methylation specific PCR (MS-PCR)Hye Young JinJin-Ho ChoiGu-Hwan KimHan-Wook YooTransient neonatal diabetes mellitus (TNDM) has been associated with paternal uniparental isodisomy of chromosome 6, paternally inherited duplication of 6q24, or a methylation defect at a CpG island of the ZAC or HYMAI gene. We experienced a case of TNDM in which the patient presented with hyperglycemia, macroglossia, and intrauterine growth retardation, caused by a paternally derived HYMAI. An 18-day-old female infant was admitted to the hospital because of macroglossia and recurrent hyperglycemia. In addition to the macroglossia, she also presented with large fontanelles, micrognathia, and prominent eyes. Serum glucose levels were 200–300 mg/dL and they improved spontaneously 2 days after admission. To identify the presence of a maternal methylated allele, bisulfite-treated genomic DNA from peripheral blood was prepared and digested with BssHII after polymerase chain reaction (PCR) amplification with methylation-specific HYMAI primers. PCR and restriction fragment length polymorphism analysis showed that the patient had only the paternal origin of the HYMA1 gene. TNDM is associated with a methylation defect in chromosome 6, suggesting that an imprinted gene on chromosome 6 is responsible for this phenotype.http://www.kjp.or.kr/upload/2010530322-20100443174543.PDF |
| spellingShingle | Hye Young Jin Jin-Ho Choi Gu-Hwan Kim Han-Wook Yoo Transient neonatal diabetes mellitus with macroglossia diagnosed by methylation specific PCR (MS-PCR) Korean Journal of Pediatrics |
| title | Transient neonatal diabetes mellitus with macroglossia diagnosed by methylation specific PCR (MS-PCR) |
| title_full | Transient neonatal diabetes mellitus with macroglossia diagnosed by methylation specific PCR (MS-PCR) |
| title_fullStr | Transient neonatal diabetes mellitus with macroglossia diagnosed by methylation specific PCR (MS-PCR) |
| title_full_unstemmed | Transient neonatal diabetes mellitus with macroglossia diagnosed by methylation specific PCR (MS-PCR) |
| title_short | Transient neonatal diabetes mellitus with macroglossia diagnosed by methylation specific PCR (MS-PCR) |
| title_sort | transient neonatal diabetes mellitus with macroglossia diagnosed by methylation specific pcr ms pcr |
| url | http://www.kjp.or.kr/upload/2010530322-20100443174543.PDF |
| work_keys_str_mv | AT hyeyoungjin transientneonataldiabetesmellituswithmacroglossiadiagnosedbymethylationspecificpcrmspcr AT jinhochoi transientneonataldiabetesmellituswithmacroglossiadiagnosedbymethylationspecificpcrmspcr AT guhwankim transientneonataldiabetesmellituswithmacroglossiadiagnosedbymethylationspecificpcrmspcr AT hanwookyoo transientneonataldiabetesmellituswithmacroglossiadiagnosedbymethylationspecificpcrmspcr |