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Temple syndrome as a result of isolated hypomethylation of the 14q32 imprinted DLK1/MEG3 region

Temple syndrome as a result of isolated hypomethylation of the 14q32 imprinted DLK1/MEG3 region
Temple syndrome as a result of isolated hypomethylation of the 14q32 imprinted DLK1/MEG3 region
We present a Caucasian female, who was diagnosed at 13 years of age with Temple syndrome (formerly referred to as “maternal UPD 14 phenotype”) due to an epigenetic loss of methylation at IG-DMR/MEG3-DMR at the chromosome 14q32 imprinted locus. Clinical features were typical and included intra-uterine growth retardation (IUGR), low birth weight, hypotonia, and poor feeding in the neonatal period; and failure to thrive and developmental delay—particularly in relation to speech—in early childhood. Premature puberty, with short stature and truncal obesity, but normal intelligence, were the key features in teenage years. To date only eight patients with Temple syndrome due to an epigenetic error have been described and the etiology of the methylation defect is currently undetermined. In view of a tendency towards central obesity, patients are at potential risk of early-onset type 2 diabetes mellitus, as well as cardiovascular disease and they, therefore, require appropriate monitoring.
temple syndrome, epigenetics, imprinting, chromosome 14q32
1552-4825
170-175
Briggs, Tracy A.
d854f462-e537-49e3-8386-12de9ff01b41
Lokulo-Sodipe, Kemi
d428f857-0e58-4964-b1f0-136af7432805
Chandler, Kate E.
a942b1b6-add4-46f8-b211-570413a384bc
Mackay, Deborah J.G.
588a653e-9785-4a00-be71-4e547850ee4a
Temple, I. Karen
d63e7c66-9fb0-46c8-855d-ee2607e6c226
Briggs, Tracy A.
d854f462-e537-49e3-8386-12de9ff01b41
Lokulo-Sodipe, Kemi
d428f857-0e58-4964-b1f0-136af7432805
Chandler, Kate E.
a942b1b6-add4-46f8-b211-570413a384bc
Mackay, Deborah J.G.
588a653e-9785-4a00-be71-4e547850ee4a
Temple, I. Karen
d63e7c66-9fb0-46c8-855d-ee2607e6c226

Briggs, Tracy A., Lokulo-Sodipe, Kemi, Chandler, Kate E., Mackay, Deborah J.G. and Temple, I. Karen (2016) Temple syndrome as a result of isolated hypomethylation of the 14q32 imprinted DLK1/MEG3 region. American Journal of Medical Genetics Part A, 170 (1), 170-175. (doi:10.1002/ajmg.a.37400). (PMID:26395259)

Record type: Article

Abstract

We present a Caucasian female, who was diagnosed at 13 years of age with Temple syndrome (formerly referred to as “maternal UPD 14 phenotype”) due to an epigenetic loss of methylation at IG-DMR/MEG3-DMR at the chromosome 14q32 imprinted locus. Clinical features were typical and included intra-uterine growth retardation (IUGR), low birth weight, hypotonia, and poor feeding in the neonatal period; and failure to thrive and developmental delay—particularly in relation to speech—in early childhood. Premature puberty, with short stature and truncal obesity, but normal intelligence, were the key features in teenage years. To date only eight patients with Temple syndrome due to an epigenetic error have been described and the etiology of the methylation defect is currently undetermined. In view of a tendency towards central obesity, patients are at potential risk of early-onset type 2 diabetes mellitus, as well as cardiovascular disease and they, therefore, require appropriate monitoring.

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More information

e-pub ahead of print date: 23 September 2015
Published date: January 2016
Keywords: temple syndrome, epigenetics, imprinting, chromosome 14q32
Organisations: Human Development & Health

Identifiers

Local EPrints ID: 381943
URI: https://eprints.soton.ac.uk/id/eprint/381943
ISSN: 1552-4825
PURE UUID: 486de807-f205-4771-bd45-2cc5399c5e3c
ORCID for Kemi Lokulo-Sodipe: ORCID iD orcid.org/0000-0002-8169-3384
ORCID for Deborah J.G. Mackay: ORCID iD orcid.org/0000-0003-3088-4401

Catalogue record

Date deposited: 14 Oct 2015 15:59
Last modified: 06 Jun 2018 12:54

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