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X-linked mental retardation and autism are associated with a mutation in the NLGN4 gene, a member of the neuroligin family.
A large French family including members affected by nonspecific X-linked mental retardation, with or without autism or pervasive developmental disorder in affected male patients, has been found toExpand
Zinc metalloproteinase, ZMPSTE24, is mutated in mandibuloacral dysplasia.
It is concluded that mutations in ZMPSTE24 may cause MAD by affecting prelamin A processing by affecting the mating defect of the haploid MATa yeast lacking STE24 and Ras-converting enzyme 1 (RCE1; another prenylprotein-specific endoprotease) genes. Expand
Duplication of the MECP2 region is a frequent cause of severe mental retardation and progressive neurological symptoms in males.
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. Expand
Mutations in the human ortholog of Aristaless cause X-linked mental retardation and epilepsy
This work has identified mutations in an X chromosome–linked, Aristaless-related, homeobox gene (ARX), in nine families with mental retardation, various forms of epilepsy, including infantile spasms and myoclonic seizures, and dystonia. Expand
Chromosome instability is common in human cleavage-stage embryos
This study establishes that chromosome instability is also common during early human embryogenesis and identifies post-zygotic chromosome instability as a leading cause of constitutional chromosomal disorders. Expand
Oligophrenin-1 encodes a rhoGAP protein involved in X-linked mental retardation
The results demonstrate an association between cognitive impairment and a defect in a signalling pathway that depends on a Ras-like GTPase, which is known to affect cell migration and outgrowth of axons and dendrites in vivo. Expand
Intelligence and psychosocial adjustment in velocardiofacial syndrome: a study of 37 children and adolescents with VCFS.
It is shown that the incidence of mental retardation is much higher in the familial than the de novo group, and Intelligence is not correlated with the presence or absence of a heart defect. Expand
GATA3 haplo-insufficiency causes human HDR syndrome
The results show that GATA3 is essential in the embryonic development of the parathyroids, auditory system and kidneys, and indicate that other GATA family members may be involved in the aetiology of human malformations. Expand
ARX, a novel Prd-class-homeobox gene highly expressed in the telencephalon, is mutated in X-linked mental retardation.
The absence of detectable brain malformations in patients suggests that ARX may have an essential role, in mature neurons, required for the development of cognitive abilities. Expand
De novo mutations in the actin genes ACTB and ACTG1 cause Baraitser-Winter syndrome
The results confirm that trio-based exome sequencing is a powerful approach to discover genes causing sporadic developmental disorders, emphasize the overlapping roles of cytoplasmic actin proteins in development and suggest that Baraitser-Winter syndrome is the predominant phenotype associated with mutation of these two genes. Expand