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Duplication of the MECP2 region is a frequent cause of severe mental retardation and progressive neurological symptoms in males.
TLDR
It is demonstrated that, in humans, not only impaired or abolished gene function but also increased MeCP2 dosage causes a distinct phenotype, which justifies quantitative screening of MECP2 in this group of patients.
Structural variation in Xq28: MECP2 duplications in 1% of patients with unexplained XLMR and in 2% of male patients with severe encephalopathy
Dorien Lugtenberg, Tjitske Kleefstra, Astrid R Oudakker, Willy M Nillesen, Helger G Yntema, Andreas Tzschach, Martine Raynaud, Dietz Rating, Hubert Journel, Jamel Chelly, Cyril Goizet, Didier
Structural variation in Xq28: MECP2 duplications in 1% of patients with unexplained XLMR and in 2% of male patients with severe encephalopathy
TLDR
DNA copy number testing for MECP2 is proposed to be implemented in the current diagnostic testing in all males with moderate to severe mental retardation accompanied by (progressive) neurological symptoms.
Mutations in DYNC1H1 cause severe intellectual disability with neuronal migration defects
TLDR
It is suggested that mutations in DYNC1H1 can lead to a broad phenotypic spectrum and confirm the importance of DyNC1h1 in both central and peripheral neuronal functions.
Diagnostic exome sequencing in 266 Dutch patients with visual impairment
TLDR
Determination of the genetic diagnosis improved the clinical diagnosis, regarding the assessment of the inheritance pattern as well as future disease perspective, and offers a number of advantages.
A Post‐Hoc Comparison of the Utility of Sanger Sequencing and Exome Sequencing for the Diagnosis of Heterogeneous Diseases
TLDR
It is found that exome sequencing has a much higher diagnostic yield than Sanger sequencing for deafness, blindness, mitochondrial disease, and movement disorders, and for microsatellite‐stable colorectal cancer, this was low under both strategies.
Identity of the RNase MRP- and RNase P-associated Th/To autoantigen.
TLDR
It is demonstrated that almost all tested anti-Th/To+ patient sera contained autoantibodies to Rpp25 and hPop1, indicating that these proteins harbor the most frequently targeted Th/To determinants.
De novo loss-of-function mutations in WAC cause a recognizable intellectual disability syndrome and learning deficits in Drosophila
TLDR
A clinically recognizable ID syndrome, caused by de novo loss-of-function mutations in WAC is defined, and WAC can be added to the list of ID genes with a role in transcription regulation through histone modification.
ZNF674: a new kruppel-associated box-containing zinc-finger gene involved in nonsyndromic X-linked mental retardation.
TLDR
Identification of ZNF674 as the third XLMR gene in this cluster may indicate a common role for seven highly related zinc-finger genes in Xp11 that is crucial to human cognitive functioning.
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