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1.
Front Genet ; 12: 611226, 2021.
Artigo em Inglês | MEDLINE | ID: mdl-34276756

RESUMO

Combined Oxidative Phosphorylation Deficiency 23 (COXPD23) caused by mutations in GTPBP3 gene is a rare mitochondrial disease, and this disorder identified from the Chinese population has not been described thus far. Here, we report a case series of three patients with COXPD23 caused by GTPBP3 mutations, from a severe to a mild phenotype. The main clinical features of these patients include lactic acidosis, myocardial damage, and neurologic symptoms. Whole genome sequencing and targeted panels of candidate human mitochondrial genome revealed that patient 1 was a compound heterozygote with novel mutations c.413C > T (p. A138V) and c.509_510del (p. E170Gfs∗42) in GTPBP3. Patient 2 was a compound heterozygote with novel mutations c.544G > T (p. G182X) and c.785A > C (p.Q262P), while patient 3 was a compound heterozygote with a previously reported mutation c.424G > A (p.E142K) and novel mutation c.785A > C (p.Q262P). In conclusion, we first describe three Chinese individuals with COXPD23, and discuss the genotype-phenotype correlations of GTPBP3 mutations. Our findings provide novel information in the diagnosis and genetic counseling of patients with mitochondrial disease.

2.
Taiwan J Obstet Gynecol ; 59(3): 451-455, 2020 May.
Artigo em Inglês | MEDLINE | ID: mdl-32416898

RESUMO

OBJECTIVE: The L1 cell adhesion molecule (L1CAM) gene, encodes the L1 cell adhesion molecule, is involved in the central nervous system development. Its mutations result in L1 syndrome which is associated with brain malformation and nervous developmental delay. CASE REPORT: We presented three fetuses with hydrocephalus and agenesis of the corpus callosum detected by ultrasound, followed by medical exome sequencing (MES) test with L1CAM mutations: two known missense mutation c.551G > A (p. R184Q) and c.1354G > A (p. G452R), and a novel frameshift mutation c.1322delG which causes the early termination of translation (p. G441Afs∗72). By utilizing multiple computational analysis, all the variants were scored to be likely pathogenic. CONCLUSION: Combined use of ultrasound and MES to identify the molecular etiology of fetal anomalies may contribute to expanding our knowledge of the clinical phenotype of L1 syndrome observed in the south Chinese population.


Assuntos
Sequenciamento do Exoma , Exoma/genética , Feto/anormalidades , Doenças Genéticas Ligadas ao Cromossomo X/diagnóstico , Deficiência Intelectual/diagnóstico , Molécula L1 de Adesão de Célula Nervosa/genética , Paraplegia Espástica Hereditária/diagnóstico , Adulto , Agenesia do Corpo Caloso/diagnóstico , Agenesia do Corpo Caloso/embriologia , Agenesia do Corpo Caloso/genética , Feminino , Doenças Genéticas Ligadas ao Cromossomo X/embriologia , Doenças Genéticas Ligadas ao Cromossomo X/genética , Humanos , Hidrocefalia/diagnóstico , Hidrocefalia/embriologia , Hidrocefalia/genética , Deficiência Intelectual/embriologia , Deficiência Intelectual/genética , Mutação , Fenótipo , Gravidez , Paraplegia Espástica Hereditária/embriologia , Paraplegia Espástica Hereditária/genética , Ultrassonografia Pré-Natal
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