The family reported to have X-linked Dyggve-Melchior-Clausen syndrome instead has X-linked SEDT caused by a novel TRAPPC2 frameshift variant

Clin Genet. 2023 Jun;103(6):720-722. doi: 10.1111/cge.14301. Epub 2023 Jan 26.

Authors

Juan J Yunis^{1

2

3}, Luz K Yunis^{1

3}

Affiliations

¹ Grupo Patología Molecular, Facultad de Medicina e Instituto de Genética Universidad Nacional de Colombia, Bogotá, Colombia.
² Departamento de Patología, Facultad de Medicina e Instituto de Genética, Universidad Nacional de Colombia, Bogotá, Colombia.
³ Servicios Médicos Yunis Turbay y Cia, SAS Instituto de Genética, Bogotá, Colombia.

PMID: 36650946
DOI: 10.1111/cge.14301

Abstract

The family reported to have X-linked Dyggve-Melchior-Clausen syndrome instead has X-linked SEDT caused by a novel TRAPPC2 frameshift variant.

© 2023 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

Publication types

Case Reports
Letter
Research Support, Non-U.S. Gov't

MeSH terms

Dwarfism*
Frameshift Mutation
Humans
Intellectual Disability*
Membrane Transport Proteins
Osteochondrodysplasias* / congenital
Transcription Factors

Substances

Membrane Transport Proteins
Transcription Factors
TRAPPC2 protein, human

Supplementary concepts

Dyggve-Melchior-Clausen syndrome