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Congenital lactic acidosis, cerebral cysts and pulmonary hypertension in an infant with FOXRED1 related complex I deficiency.
Apatean, Delia; Rakic, Bojana; Brunel-Guitton, Catherine; Hendson, Glenda; Bai, Renkui; Sargent, Michael A; Lavoie, Pascal M; Patel, Millan; Stockler-Ipsiroglu, Sylvia.
Afiliação
  • Apatean D; Division of Biochemical Diseases, Department of Pediatric, University of British Columbia, BC Children's Hospital, Room K3-206, 4480 Oak Street, Vancouver, BC V6H 3V4, Canada.
  • Rakic B; BC Newborn Screening Program and Biochemical Genetics Lab, BC Children's Hospital, BC Women's Hospital & Health Centre, 2F16-4500 Oak Street, Vancouver, BC V6H 3N1, Canada.
  • Brunel-Guitton C; Department of Pediatrics, CHU Sainte-Justine, 3175, chemin Cote Sainte-Catherine, Montreal, Quebec H3T 1C5, Canada.
  • Hendson G; Department of Pathology, BC Children's Hospital, BC Women's Hospital & Health Centre, 2H56-4500 Oak Street, Vancouver, BC V6H 3N1, Canada.
  • Bai R; GeneDx, 207 Perry Parkway, Gaithersburg, MD 20877, United States.
  • Sargent MA; University of British Columbia, Department of Radiology, BC Children's Hospital, Room 1L72, 4480 Oak Street, Vancouver, BC V6H 3V4, Canada.
  • Lavoie PM; BC Children's Hospital Research Institute, Room A4-147, 4th floor Translational Research Building, 950 West 28th Avenue, Vancouver, BC V5Z 4H4, Canada.
  • Patel M; Department of Medical Genetics, University of British Columbia, Room C234, 4500 Oak Street, Vancouver, BC V6H 3N1, Canada.
  • Stockler-Ipsiroglu S; University of British Columbia, Head Division of Biochemical Genetics, BC Children's Hospital, Room K3-205, 4480 Oak Street, Vancouver, BC V6H 3V4, Canada.
Mol Genet Metab Rep ; 18: 32-38, 2019 Mar.
Article em En | MEDLINE | ID: mdl-30723688
Mitochondrial complex I is encoded by 38 nuclear-encoded and 7 mitochondrial-encoded genes. FOXRED1 is one of the 13 additional nuclear genes known as assembly factors. So far, four patients have been described with complex I deficiency caused by autosomal recessive mutations in FOXRED1. Here, we report the fifth patient with FOXRED1 related complex 1 deficiency presenting with prenatal onset of bilateral periventricular cysts, congenital lactic acidosis, and persistent life-limiting pulmonary hypertension. Whole exome sequencing identified a compound heterozygosity for a known pathogenic variant (c.612_615dupAGTG; p.A206SfsX15) (paternal) and a likely pathogenic variant (c.874G > A; p.Gly292Arg) (maternal). Deficiency of complex I was demonstrated by the absence of complex I on Blue Native Gel Electrophoresis and by a significantly reduced complex I enzyme activity in the patient's fibroblasts. Compared with the previous known FOXRED1 cases, unique clinical features observed in our patient include bilateral periventricular cysts and severe pulmonary hypertension. Whole exome sequencing was instrumental in recognizing the underlying gene defect in this patient.

Texto completo: 1 Base de dados: MEDLINE Tipo de estudo: Prognostic_studies Idioma: En Ano de publicação: 2019 Tipo de documento: Article

Texto completo: 1 Base de dados: MEDLINE Tipo de estudo: Prognostic_studies Idioma: En Ano de publicação: 2019 Tipo de documento: Article