A Japanese patient with a 2p25.3 terminal deletion presented with early-onset obesity, intellectual disability and diabetes mellitus: A case report.
2p25.3 deletion
Diabetes mellitus
Obesity
Journal
Journal of diabetes investigation
ISSN: 2040-1124
Titre abrégé: J Diabetes Investig
Pays: Japan
ID NLM: 101520702
Informations de publication
Date de publication:
Feb 2022
Feb 2022
Historique:
revised:
04
08
2021
received:
31
05
2021
accepted:
06
08
2021
pubmed:
13
8
2021
medline:
19
2
2022
entrez:
12
8
2021
Statut:
ppublish
Résumé
2p25.3 deletion syndrome is a rare genetic disorder that accompanies various phenotypic features, including early-onset obesity and intellectual disability. Here, we report the first Japanese case of this deletion associated with severe obesity and diabetes mellitus. Microarray-based comparative genomic hybridization analysis identified a 3.1-Mb deletion of distal chromosome band 2p25.3, which was suspected as de novo. The patient also presented bilateral cataracts and adolescent-onset muscular weakness of the upper limbs, both of which were uncommon in previously reported cases. It is possible that these symptoms are also important clinical features suggestive of this syndrome.
Identifiants
pubmed: 34382350
doi: 10.1111/jdi.13645
pmc: PMC8847130
doi:
Types de publication
Case Reports
Langues
eng
Sous-ensembles de citation
IM
Pagination
391-396Informations de copyright
© 2021 The Authors. Journal of Diabetes Investigation published by Asian Association for the Study of Diabetes (AASD) and John Wiley & Sons Australia, Ltd.
Références
Eur J Hum Genet. 2014 Apr;22(4):471-9
pubmed: 24129437
Am J Hum Genet. 2011 Sep 9;89(3):464-73
pubmed: 21907015
PLoS Genet. 2017 Aug 31;13(8):e1006957
pubmed: 28859103
Genet Med. 2015 Jun;17(6):460-6
pubmed: 25232846
Am J Med Genet A. 2017 May;173(5):1264-1269
pubmed: 28371282
Am J Med Genet A. 2011 Nov;155A(11):2739-45
pubmed: 21990140
Obes Rev. 2008 Mar;9 Suppl 1:53-61
pubmed: 18307700
Hum Mol Genet. 2014 Nov 1;23(21):5597-614
pubmed: 24895407
Am J Med Genet A. 2020 May;182(5):1021-1031
pubmed: 32065501
Sci Rep. 2018 Apr 24;8(1):6451
pubmed: 29691431