Expanding the phenotype of DNAJC3 mutations: A case with hypothyroidism additionally to diabetes mellitus and multisystemic neurodegeneration

S K Bublitz; B Alhaddad; M Synofzik; V Kuhl; A Lindner; C Freiberg; H Schmidt; T M Strom; T B Haack; M Deschauer

doi:10.1111/cge.13069

Expanding the phenotype of DNAJC3 mutations: A case with hypothyroidism additionally to diabetes mellitus and multisystemic neurodegeneration

Clin Genet. 2017 Nov;92(5):561-562. doi: 10.1111/cge.13069. Epub 2017 Sep 21.

Authors

S K Bublitz¹, B Alhaddad², M Synofzik³, V Kuhl⁴, A Lindner⁴, C Freiberg⁵, H Schmidt⁶, T M Strom⁷, T B Haack², M Deschauer¹

Affiliations

¹ Department of Neurology, Klinikum rechts der Isar, Technische Universität München, Munich, Germany.
² Institute of Human Genetics, Technische Universität München, München, Germany.
³ Department of Neurodegeneration, Hertie Institute for Clinical Brain Research (HIH), University of Tübingen, and German Center for Neurodegenerative Diseases (DZNE), Tübingen, Germany.
⁴ Department of Neurology, Marienhospital Stuttgart, Stuttgart, Germany.
⁵ Department of Pediatrics, Universitätsmedizin Göttingen, Göttingen, Germany.
⁶ Division of Pediatric Endocrinology, University Children's Hospital, Ludwig-Maximilian University, Munich, Germany.
⁷ Institute of Human Genetics, Helmholtz Zentrum München, Neuherberg, Germany.

PMID: 28940199
DOI: 10.1111/cge.13069

Abstract

Identification of this additional patient from a distant part of the originally described pedigree (Synofzik et al. 2014) confirms pathogenicity of DNAJC3 mutations. Hypothyroidism is a newly identified feature in addition to the known phenotype (diabetes with multisystemic neurodegeneration).

Publication types

Case Reports
Letter

MeSH terms

Congenital Hypothyroidism / complications*
Congenital Hypothyroidism / genetics*
Diabetes Mellitus / genetics*
Female
HSP40 Heat-Shock Proteins / genetics*
Humans
Male
Mutation / genetics*
Nerve Degeneration / complications*
Nerve Degeneration / genetics*
Pedigree
Phenotype
Young Adult

Substances

DNAJC3 protein, human
HSP40 Heat-Shock Proteins