A X-linked nonsense APOO/MIC26 variant causes a lethal mitochondrial disease with progeria-like phenotypes
Clin Genet. 2023 Aug 30. doi: 10.1111/cge.14420. Online ahead of print.ABSTRACTAPOO/MIC26 is a subunit of the MICOS complex required for mitochondrial cristae morphology and function. Here, we report a novel variant of the APOO/MIC26 gene that causes a severe mitochondrial disease with overall progeria-like phenotypes in two patients. Both patients developed partial agenesis of the corpus callosum, bilateral congenital cataract, hypothyroidism, and severe immune deficiencies. The patients died at an early age of 12 or 18 months. Exome sequencing revealed a mutation (NM_024122.5): c.532G>T (p.E178*) in the APOO/MIC26 gen...
Source: Clinical Genetics - August 31, 2023 Category: Genetics & Stem Cells Authors: Leon Peifer-Wei ß Mazen Kurban C éline David Melissa Lubeck Arun Kumar Kondadi Georges Nemer Andreas S Reichert Ruchika Anand Source Type: research
A X-linked nonsense APOO/MIC26 variant causes a lethal mitochondrial disease with progeria-like phenotypes
Clin Genet. 2023 Aug 30. doi: 10.1111/cge.14420. Online ahead of print.ABSTRACTAPOO/MIC26 is a subunit of the MICOS complex required for mitochondrial cristae morphology and function. Here, we report a novel variant of the APOO/MIC26 gene that causes a severe mitochondrial disease with overall progeria-like phenotypes in two patients. Both patients developed partial agenesis of the corpus callosum, bilateral congenital cataract, hypothyroidism, and severe immune deficiencies. The patients died at an early age of 12 or 18 months. Exome sequencing revealed a mutation (NM_024122.5): c.532G>T (p.E178*) in the APOO/MIC26 gen...
Source: Clinical Genetics - August 31, 2023 Category: Genetics & Stem Cells Authors: Leon Peifer-Wei ß Mazen Kurban C éline David Melissa Lubeck Arun Kumar Kondadi Georges Nemer Andreas S Reichert Ruchika Anand Source Type: research
A X-linked nonsense APOO/MIC26 variant causes a lethal mitochondrial disease with progeria-like phenotypes
Clin Genet. 2023 Aug 30. doi: 10.1111/cge.14420. Online ahead of print.ABSTRACTAPOO/MIC26 is a subunit of the MICOS complex required for mitochondrial cristae morphology and function. Here, we report a novel variant of the APOO/MIC26 gene that causes a severe mitochondrial disease with overall progeria-like phenotypes in two patients. Both patients developed partial agenesis of the corpus callosum, bilateral congenital cataract, hypothyroidism, and severe immune deficiencies. The patients died at an early age of 12 or 18 months. Exome sequencing revealed a mutation (NM_024122.5): c.532G>T (p.E178*) in the APOO/MIC26 gen...
Source: Clinical Genetics - August 31, 2023 Category: Genetics & Stem Cells Authors: Leon Peifer-Wei ß Mazen Kurban C éline David Melissa Lubeck Arun Kumar Kondadi Georges Nemer Andreas S Reichert Ruchika Anand Source Type: research
A X-linked nonsense APOO/MIC26 variant causes a lethal mitochondrial disease with progeria-like phenotypes
Clin Genet. 2023 Aug 30. doi: 10.1111/cge.14420. Online ahead of print.ABSTRACTAPOO/MIC26 is a subunit of the MICOS complex required for mitochondrial cristae morphology and function. Here, we report a novel variant of the APOO/MIC26 gene that causes a severe mitochondrial disease with overall progeria-like phenotypes in two patients. Both patients developed partial agenesis of the corpus callosum, bilateral congenital cataract, hypothyroidism, and severe immune deficiencies. The patients died at an early age of 12 or 18 months. Exome sequencing revealed a mutation (NM_024122.5): c.532G>T (p.E178*) in the APOO/MIC26 gen...
Source: Clinical Genetics - August 31, 2023 Category: Genetics & Stem Cells Authors: Leon Peifer-Wei ß Mazen Kurban C éline David Melissa Lubeck Arun Kumar Kondadi Georges Nemer Andreas S Reichert Ruchika Anand Source Type: research
A X-linked nonsense APOO/MIC26 variant causes a lethal mitochondrial disease with progeria-like phenotypes
Clin Genet. 2023 Aug 30. doi: 10.1111/cge.14420. Online ahead of print.ABSTRACTAPOO/MIC26 is a subunit of the MICOS complex required for mitochondrial cristae morphology and function. Here, we report a novel variant of the APOO/MIC26 gene that causes a severe mitochondrial disease with overall progeria-like phenotypes in two patients. Both patients developed partial agenesis of the corpus callosum, bilateral congenital cataract, hypothyroidism, and severe immune deficiencies. The patients died at an early age of 12 or 18 months. Exome sequencing revealed a mutation (NM_024122.5): c.532G>T (p.E178*) in the APOO/MIC26 gen...
Source: Clinical Genetics - August 31, 2023 Category: Genetics & Stem Cells Authors: Leon Peifer-Wei ß Mazen Kurban C éline David Melissa Lubeck Arun Kumar Kondadi Georges Nemer Andreas S Reichert Ruchika Anand Source Type: research
