Search Results
You are looking at 1 - 1 of 1 items for :
- Abstract: Birth defect x
- Abstract: Bisphenol-A x
- Pituitary and Hypothalamus x
Department of Health Sciences, University of Florence, Florence, Italy
Search for other papers by Alessandro Barbato in
Google Scholar
PubMed
Search for other papers by Giulia Gori in
Google Scholar
PubMed
Search for other papers by Michele Sacchini in
Google Scholar
PubMed
Search for other papers by Francesca Pochiero in
Google Scholar
PubMed
Search for other papers by Sara Bargiacchi in
Google Scholar
PubMed
Search for other papers by Giovanna Traficante in
Google Scholar
PubMed
Search for other papers by Viviana Palazzo in
Google Scholar
PubMed
Search for other papers by Lucia Tiberi in
Google Scholar
PubMed
Search for other papers by Claudia Bianchini in
Google Scholar
PubMed
Search for other papers by Davide Mei in
Google Scholar
PubMed
Search for other papers by Elena Parrini in
Google Scholar
PubMed
Search for other papers by Tiziana Pisano in
Google Scholar
PubMed
Search for other papers by Elena Procopio in
Google Scholar
PubMed
NEUROFARBA Department, University of Florence, Florence, Italy
Search for other papers by Renzo Guerrini in
Google Scholar
PubMed
Department of Clinical and Experimental Biomedical Sciences “Mario Serio”, University of Florence, Florence, Italy
Search for other papers by Angela Peron in
Google Scholar
PubMed
Department of Health Sciences, University of Florence, Florence, Italy
Search for other papers by Stefano Stagi in
Google Scholar
PubMed
Context
Cytochrome C oxidase (COX) is the fourth component of the respiratory chain and is located within the internal membrane of mitochondria. COX deficiency causes an inherited mitochondrial disease with significant genetic and phenotypic heterogeneity. Four clinical subtypes have been identified, each with distinct phenotypes and genetic variants. Mitochondrial complex IV deficiency nuclear type 4 (MC4DN4) is a form of COX deficiency associated with pathogenic variants in the SCO1 gene.
Case description
We describe three patients with MC4DN4 with developmental and epileptic encephalopathy (DEE), hypopituitarism, and SCO1 pathogenic variants. These patients’ phenotypes considerably differ from previously reported MC4DN4 phenotypes as they associate DEE with progressive hypopituitarism and survival beyond the first months after birth. Pituitary deficiency in these patients progressively worsened and mainly involved growth hormone secretion and thyroid function.
Conclusions
Our findings expand knowledge of phenotypic variability in MC4DN4 and suggest that SCO1 is a candidate gene for genetic hypopituitarism and DEE.
Significance statement
Our paper describes three patients affected by MC4DN4 with hypopituitarism and developmental and epileptic encephalopathy (DEE), two features that have never been associated with this condition. In addition, we reviewed the clinical features of all previous cases of MC4DN4 to give the other clinicians a wide picture of the clinical phenotype of this genetic disease. We hope that the publication of our data may help others to identify this disease and consider the chance to analyze the SCO1 gene in cases of DEE associated with pituitary dysfunction. Our article contributes to expanding the spectrum of genetic hypopituitarism and proposes a model to explain an association between this condition, mitochondrial anomalies, and neurodevelopmental defects.
