Further evidence supporting the role of DUT gene in diabetes with bone marrow failure syndrome.
DUT gene
bone marrow aplasia
bone marrow transplantation
childhood diabetes
monogenic diabetes
Journal
American journal of medical genetics. Part A
ISSN: 1552-4833
Titre abrégé: Am J Med Genet A
Pays: United States
ID NLM: 101235741
Informations de publication
Date de publication:
08 2022
08 2022
Historique:
revised:
21
03
2022
received:
05
12
2021
accepted:
05
04
2022
pubmed:
26
5
2022
medline:
15
7
2022
entrez:
25
5
2022
Statut:
ppublish
Résumé
In 2017, a homozygous DUT mutation was reported to cause a syndrome of diabetes and bone marrow failure. However, no further patient with this combination has been reported and the phenotype of heterozygous DUT mutation is unknown. We describe the genotype, phenotype, and post bone marrow transplantation (BMT) data of two unrelated families with this rare syndrome. Whole-exome and/or direct sequencing of the DUT gene were performed in all family members. Each family has two children presented within the first 10 years of life with thrombocytopenia, macrocytosis, with or without anemia, followed by non-autoimmune diabetes. The same homozygous missense DUT mutation, reported in 2017 (c.425A>G p.(Tyr142Cys), was detected in all affected children. The heterozygous carriers have no BM failure, one developed type 2 diabetes, and the rest have normal fasting glucose, insulin, HbA1c, and c-peptide. Multiple nevi were detected in homozygous and heterozygous mutation carriers. Allogenic BMT normalized BM aplasia without impact on diabetes. Post BMT follow-up revealed normal puberty and school performance; but three have height <2.5 SDS. We add two families with this syndrome supporting a role of DUT in bone marrow and β-cell function. The heterozygous carriers of this DUT mutation appear to be healthy.
Identifiants
pubmed: 35611808
doi: 10.1002/ajmg.a.62771
doi:
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
2406-2412Informations de copyright
© 2022 Wiley Periodicals LLC.
Références
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