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Transient neonatal diabetes mellitus in a Turkish patient with three novel homozygous variants in the ZFP57 gene

Transient neonatal diabetes mellitus in a Turkish patient with three novel homozygous variants in the ZFP57 gene
Transient neonatal diabetes mellitus in a Turkish patient with three novel homozygous variants in the ZFP57 gene
Neonatal diabetes mellitus (NDM) is a rare form of diabetes that presents within the first six months of life. Nearly 70% of these cases have loss of methylation at the differentially methylated region on chromosome 6q24. To describe the findings in a Turkish male patient with NDM caused by a loss of methylation at chromosome 6q24 and three novel homozygous mutations in the ZFP57 gene, methylation-specific PCR was carried out at 6q24 and mutation analysis of ZFP57 gene was maintained by direct sequencing. Sequencing of ZFP57 gene revealed the hypomethylation of chromosome 6q24 and three novel mutations (chr6:29.641.413 A>T, 29.641.073 C>T, and 29.640.855 G>C), respectively. The latter mutation seems to display the patient’s condition due to a highly conservative amino acid substitution in the protein. We suggest the ZFP57 gene as a causative factor for NDM and it should be considered in genetic testing. Further studies including functional analysis of the detected mutations will provide precise information regarding the effect of the mutations.
1308-5727
125-128
Boyraz, Mehmet
531e62ad-2cd5-451f-84b3-432e845e2f96
Ulucan, Korkut
2bfbcae6-90f7-41a4-b9f5-9d1a198b7ee9
Taşkın, Necati
354858d3-d98c-4198-a1ea-c61d29e54f3e
Akçay, Teoman
82fe1153-87cf-4c27-a03a-9a5fbf29e1a1
Flanagan, Sarah E.
ad5fb709-7f4b-4063-9b9f-bdf9c1cf1d2b
Mackay, Deborah J.G.
588a653e-9785-4a00-be71-4e547850ee4a
Boyraz, Mehmet
531e62ad-2cd5-451f-84b3-432e845e2f96
Ulucan, Korkut
2bfbcae6-90f7-41a4-b9f5-9d1a198b7ee9
Taşkın, Necati
354858d3-d98c-4198-a1ea-c61d29e54f3e
Akçay, Teoman
82fe1153-87cf-4c27-a03a-9a5fbf29e1a1
Flanagan, Sarah E.
ad5fb709-7f4b-4063-9b9f-bdf9c1cf1d2b
Mackay, Deborah J.G.
588a653e-9785-4a00-be71-4e547850ee4a

Boyraz, Mehmet, Ulucan, Korkut, Taşkın, Necati, Akçay, Teoman, Flanagan, Sarah E. and Mackay, Deborah J.G. (2013) Transient neonatal diabetes mellitus in a Turkish patient with three novel homozygous variants in the ZFP57 gene. Journal of Clinical Research in Pediatric Endocrinology, 5 (2), 125-128. (doi:10.4274/Jcrpe.928). (PMID:23748067)

Record type: Article

Abstract

Neonatal diabetes mellitus (NDM) is a rare form of diabetes that presents within the first six months of life. Nearly 70% of these cases have loss of methylation at the differentially methylated region on chromosome 6q24. To describe the findings in a Turkish male patient with NDM caused by a loss of methylation at chromosome 6q24 and three novel homozygous mutations in the ZFP57 gene, methylation-specific PCR was carried out at 6q24 and mutation analysis of ZFP57 gene was maintained by direct sequencing. Sequencing of ZFP57 gene revealed the hypomethylation of chromosome 6q24 and three novel mutations (chr6:29.641.413 A>T, 29.641.073 C>T, and 29.640.855 G>C), respectively. The latter mutation seems to display the patient’s condition due to a highly conservative amino acid substitution in the protein. We suggest the ZFP57 gene as a causative factor for NDM and it should be considered in genetic testing. Further studies including functional analysis of the detected mutations will provide precise information regarding the effect of the mutations.

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More information

Published date: 6 June 2013
Organisations: Human Development & Health

Identifiers

Local EPrints ID: 353663
URI: https://eprints.soton.ac.uk/id/eprint/353663
ISSN: 1308-5727
PURE UUID: 293a6d0f-e734-4d12-9aa7-6aa6da4fb25e
ORCID for Deborah J.G. Mackay: ORCID iD orcid.org/0000-0003-3088-4401

Catalogue record

Date deposited: 13 Jun 2013 11:15
Last modified: 06 Jun 2018 12:54

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