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Cap myopathy caused by a mutation of the skeletal alpha-actin gene ACTA1
TLDR
This case emphasizes the genetic heterogeneity of cap myopathy and its association with ACTA1 gene as well as the importance of repeat muscle biopsy in patients with undiagnosed muscle weakness.
Recessive mutations in POLR1C cause a leukodystrophy by impairing biogenesis of RNA polymerase III
TLDR
This study is the first to show that distinct mutations in a gene coding for a shared subunit of two RNA polymerases lead to selective modification of the enzymes' availability leading to two different clinical conditions and to shed some light on the pathophysiological mechanism of one of the most common hypomyelinating leukodystrophies, POLR3-related leukODYstrophy.
Cognitive and Neurobehavioral Profile in Boys With Duchenne Muscular Dystrophy
TLDR
There is a trend of cumulative loss of dystrophin isoforms with declining full-scale IQ in boys with Duchenne muscular dystrophy, and enhanced psychology testing to include both cognitive and neurobehavioral disorders is recommended.
Utility of whole‐exome sequencing for those near the end of the diagnostic odyssey: time to address gaps in care
TLDR
The analysis of this dataset showed that these known disease genes were not identified prior to WES enrollment for two key reasons: genetic heterogeneity associated with a clinical diagnosis and atypical presentation of known, clinically recognized diseases.
Neurological complications of cardio‐facio‐cutaneous syndrome
Cardio‐facio‐cutaneous syndrome (CFC) is a multiple congenital anomaly disorder characterized by craniofacial dysmorphia, ectodermal abnormalities, congenital heart defects, and developmental and
CHD2 haploinsufficiency is associated with developmental delay, intellectual disability, epilepsy and neurobehavioural problems
TLDR
The results of this study support a causative role of CHD2 haploinsufficiency in developmental delay, intellectual disability, epilepsy and behavioural problems, with phenotypic variability between individuals.
Lethal Disorder of Mitochondrial Fission Caused by Mutations in DNM1L.
TLDR
Two infants with hypotonia, absent respiratory effort, and giant mitochondria in neurons due to compound heterozygosity for 2 nonsense mutations of DNM1L are described, confirming the central role of mitochondrial fission to normal human development.
Cockayne syndrome caused by paternally inherited 5 Mb deletion of 10q11.2 and a frameshift mutation of ERCC6.
TLDR
A patient with a clinical phenotype of severe infantile CS who has a paternally inherited 5 Mb deletion of 10q11.2 resulting in loss of one allele and a previously unreported frameshift mutation of ERCC6 on the maternal allele is reported.
Whole-genome sequencing expands diagnostic utility and improves clinical management in paediatric medicine
TLDR
Clinical implementation of WGS as a primary test will provide a higher diagnostic yield than conventional genetic testing and potentially reduce the time required to reach a genetic diagnosis.
Exome Sequencing as a Diagnostic Tool for Pediatric-Onset Ataxia
TLDR
The data suggest that exome sequencing is an effective first line test for pediatric patients with ataxia where a specific single gene is not immediately suspected to be causative.
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