A novel POU1F1 pathogenic variant: Two familial case reports with phenotype expansion

Noha Musa; Mohamed A Elmonem; Christian Beetz; Mona Hafez; Mona Hassan; Arndt Rolfs; Laila Selim; Nour Elkhateeb

doi:10.1111/cge.14043

A novel POU1F1 pathogenic variant: Two familial case reports with phenotype expansion

Clin Genet. 2021 Nov;100(5):641-642. doi: 10.1111/cge.14043. Epub 2021 Aug 11.

Authors

Noha Musa¹, Mohamed A Elmonem², Christian Beetz³, Mona Hafez¹, Mona Hassan¹, Arndt Rolfs³, Laila Selim⁴, Nour Elkhateeb⁴

Affiliations

¹ Diabetes, Endocrine and Metabolism Pediatric Unit, Pediatrics Department, Faculty of Medicine, Cairo University, Cairo, Egypt.
² Clinical and Chemical Pathology Department, Faculty of Medicine, Cairo University, Cairo, Egypt.
³ Centogene-GmbH, Rostock, Germany.
⁴ Pediatric Neurology and Inherited Metabolic Diseases Unit, Pediatrics Department, Faculty of Medicine, Cairo University, Cairo, Egypt.

PMID: 34378789
DOI: 10.1111/cge.14043

Abstract

Up: A schematic-diagram of POU1F1-gene. Down right: an electrophoretogram of the detected novel pathogenic-variant in comparison with wild-type POU1F1 exon-6 sequence. Down left: Family pedigree of the two-siblings reported.

Publication types

Letter

MeSH terms

Adrenocorticotropic Hormone / deficiency
Brain / abnormalities
Consanguinity
Endocrine System Diseases
Genetic Association Studies
Genetic Diseases, Inborn
Genetic Loci
Genetic Predisposition to Disease
Homozygote
Humans
Hypoglycemia
Magnetic Resonance Imaging
Mutation*
Pedigree
Phenotype*
Siblings
Transcription Factor Pit-1 / genetics*

Substances

POU1F1 protein, human
Transcription Factor Pit-1
Adrenocorticotropic Hormone

Supplementary concepts

ACTH Deficiency, Isolated