Decision letter for "Homozygous loss‐of‐function mutations in CCDC134 are responsible for a severe form of osteogenesis imperfecta"

2019 ◽  
Keyword(s):  
Osteogenesis Imperfecta ◽  
Severe Form ◽  
Loss Of Function

Author response for "Homozygous loss‐of‐function mutations in CCDC134 are responsible for a severe form of osteogenesis imperfecta"

2020 ◽  
Author(s):  
Johanne Dubail ◽  
Perrine Brunelle ◽  
Geneviève Baujat ◽  
Céline Huber ◽  
Mathilde Doyard ◽  
...  
Keyword(s):  
Osteogenesis Imperfecta ◽  
Severe Form ◽  
Author Response ◽  
Loss Of Function

Homozygous Loss‐of‐Function Mutations in CCDC134 Are Responsible for a Severe Form of Osteogenesis Imperfecta

2020 ◽  
Vol 35 (8) ◽  
pp. 1470-1480 ◽  
Author(s):  
Johanne Dubail ◽  
Perrine Brunelle ◽  
Geneviève Baujat ◽  
Céline Huber ◽  
Mathilde Doyard ◽  
...  
Keyword(s):  
Osteogenesis Imperfecta ◽  
Severe Form ◽  
Loss Of Function

Novel splicing mutation in FKBP10 gene in a patient with moderate/severe form of osteogenesis imperfecta

2013 ◽  
Author(s):  
Venturi Giacomo ◽  
Gandini Alberto ◽  
Monti Elena ◽  
Corradi Massimiliano ◽  
Vincenzi Monica ◽  
...  
Keyword(s):  
Osteogenesis Imperfecta ◽  
Severe Form ◽  
Splicing Mutation

scholarly journals Leigh Syndrome Due to NDUFV1 Mutations Initially Presenting as LBSL

Genes ◽  
2020 ◽  
Vol 11 (11) ◽  
pp. 1325
Author(s):  
Nurun Nahar Borna ◽  
Yoshihito Kishita ◽  
Norio Sakai ◽  
Yusuke Hamada ◽  
Koji Kamagata ◽  
...  
Keyword(s):  
Brain Mri ◽  
Leigh Syndrome ◽  
Rare Condition ◽  
Psychomotor Retardation ◽  
Dorsal Column ◽  
Severe Form ◽  
Cerebral White Matter ◽  
Nadh:Ubiquinone Oxidoreductase ◽  
Loss Of Function ◽  
Radiological Features

Leigh syndrome (LS) is most frequently characterized by the presence of focal, bilateral, and symmetric brain lesions Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation (LBSL) is a rare condition, characterized by progressive pyramidal, cerebellar, and dorsal column dysfunction. We describe a case with infantile-onset neurodegeneration, psychomotor retardation, irritability, hypotonia, and nystagmus. Brain MRI demonstrated signal abnormalities in the deep cerebral white matter, corticospinal and dorsal column tracts, and pyramids, which resemble the MRI pattern of a severe form of LBSL, and involvement of basal ganglia and thalamus that resemble the radiological features of LS. We identified biallelic loss-of-function mutations, one novel (c.756delC, p.Thr253Glnfs*44) and another reported (c.1156C > T, p.Arg386Cys), in NDUFV1 (NADH:Ubiquinone Oxidoreductase Core Subunit V1) by exome sequencing. Biochemical and functional analyses revealed lactic acidosis, complex I (CI) assembly and enzyme deficiency, and a loss of NDUFV1 protein. Complementation assays restored the NDUFV1 protein, CI assembly, and CI enzyme levels. The clinical and radiological features of this case are compatible with the phenotype of LS and LBSL associated with NDUFV1 mutations.

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