| Transient neonatal diabetes mellitus with macroglossia
diagnosed by methylation specific PCR (MS-PCR) |
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Hye Young Jin1, Jin-Ho Choi1, Gu-Hwan Kim2, Han-Wook Yoo3 |
1Division of Pediatric Endocrinology and Metabolism, Department of Pediatrics, Asan Medical Center Children`s Hospital, University of Ulsan College of Medicine, Seoul, Korea
2Medical Genetics Clinic & Laboratory, University of Ulsan College of Medicine, Seoul, Korea
3Division of Pediatric Endocrinology and Metabolism, Department of Pediatrics, Medical Genetics Clinic & Laboratory, Asan Medical Center Children`s Hospital, University of Ulsan College of Medicine, Seoul, Korea |
| 메틸화 특이 PCR로 진단된 거설증을 동반한 일과성 신생아 당뇨병 |
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진혜영1, 최진호1, 김구환2, 유한욱3 |
1울산대학교 의과대학 소아과학교실
2서울아산병원 의학유전학 클리닉
3울산대학교 의과대학 소아과학교실, 서울아산병원 의학유전학 클리닉 |
Correspondence:
Han-Wook Yoo, Email: hwyoo@amc.seoul.kr
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Received: 15 July 2009 • Revised: 5 January 2010 • Accepted: 18 February 2010 |
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| Abstract |
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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. |
| Key Words:
Transient neonatal diabetes mellitus, Macroglossia, Methylation defect |
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