PRUNE Syndrome Is a New Neurodevelopmental Disorder

PRUNE Syndrome Is a New Neurodevelopmental Disorder

PRUNE syndrome, or neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies (OMIM#617481), is a new rare autosomal recessive neurodevelopmental disease that is caused by homozygous or compound heterozygous mutation in PRUNE1 on chromosome 1q21. Here, We report on 12-month-old and 30-month-old girls from 2 unrelated Saudi families with typical presentations of PRUNE...

Is schizophrenia a neurodevelopmental disorder?

Rett syndrome: a prototypical neurodevelopmental disorder.

Rett syndrome, one of the leading causes of mental retardation and developmental regression in girls, is the first pervasive developmental disorder with a known genetic cause. The majority of cases of sporadic Rett syndrome are caused by mutations in the gene encoding methyl-CpG-binding protein 2 (MeCP2). MeCP2 binds methylated DNA and likely regulates gene expression and chromatin structure. G...

Schizophrenia is (not simply) a neurodevelopmental disorder.

Schizophrenia affects almost 1% of the population at some point in their life. It occurs in all geographic areas in which studies have been done, although the outcome appears to be better in developing countries. In this editorial we will discuss the evidence, from epidemiological, genetic and neuroimaging studies, that suggests that schizophrenia is in part a neurodevelopmental disorder. Howev...

Prune Belly Syndrome

Prune belly syndrome is a rare congenital disorder of the urinary system, characterized by a triad of abnormalities. The aetiology is not known. Many infants are either stillborn or die within the first few weeks of life from severe lung or kidney problems, or a combination of congenital anomalies.