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Hypomorphic mutations in syndromic encephalocele genes are associated with Bardet-Biedl syndrome
TLDR
It is shown that mutations in MKS1, MKS3 and CEP290 either can cause Bardet-Biedl syndrome (BBS) or may have a potential epistatic effect on mutations in known BBS-associated loci, and that BBS and MKS, although distinct clinically, are allelic forms of the same molecular spectrum.
Accelerating novel candidate gene discovery in neurogenetic disorders via whole-exome sequencing of prescreened multiplex consanguineous families.
Our knowledge of disease genes in neurological disorders is incomplete. With the aim of closing this gap, we performed whole-exome sequencing on 143 multiplex consanguineous families in whom known
Clinical exome sequencing: results from 2819 samples reflecting 1000 families
TLDR
It is suggested that WES has a better yield in patients that present with several symptoms, rather than an isolated abnormality, and is recommended as a first-line diagnostic in all cases without a clear differential diagnosis.
Biotin-responsive basal ganglia disease should be renamed biotin-thiamine-responsive basal ganglia disease: a retrospective review of the clinical, radiological and molecular findings of 18 new cases
TLDR
Clinicians should suspect BBGD in any child presenting with sub acute encephalopathy, abnormal movement and MRI findings as described above, and both biotin and thiamine are essential for disease management.
Exome Sequencing and the Management of Neurometabolic Disorders.
TLDR
Deep phenotyping and whole-exome sequencing in 41 probands with intellectual developmental disorder and unexplained metabolic abnormalities led to a diagnosis in 68%, the identification of 11 candidate genes newly implicated in neurometabolic disease, and a change in treatment beyond genetic counseling in 44%.
The landscape of genetic diseases in Saudi Arabia based on the first 1000 diagnostic panels and exomes
TLDR
The experience of the only reference clinical next-generation sequencing lab in Saudi Arabia with the first 1000 families who span a wide-range of suspected Mendelian phenotypes suggests that most “negative” clinical exome tests are unsolved due to interpretation rather than technical limitations.
ISCA2 mutation causes infantile neurodegenerative mitochondrial disorder
TLDR
The data demonstrate that ISCA2 deficiency leads to a hereditary mitochondrial neurodegenerative white matter disease in infancy.
Clinical and molecular characteristics of mitochondrial DNA depletion syndrome associated with neonatal cholestasis and liver failure.
OBJECTIVE To determine the frequency of mitochondrial DNA depletion syndrome (MDS) in infants with cholestasis and liver failure and to further clarify the clinical, biochemical, radiologic,
Expanding the genetic heterogeneity of intellectual disability
TLDR
This study describes the phenotypic and genetic findings of 68 families all with novel ID-related variants and demonstrates the power of positional mapping to reveal unusual mutational mechanisms.
Thirteen year retrospective review of the spectrum of inborn errors of metabolism presenting in a tertiary center in Saudi Arabia
TLDR
This study confirms the previous results of the high rate of IEMs in Saudi Arabia and urges the health care strategists in the country to devise a long-term strategic plan, including an IEM national registry and a high school carrier screening program, for the prevention of such disorders.
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