Five children with deletions of 1p34.3 encompassing AGO1 and AGO3.

Small RNAs (miRNA, siRNA, and piRNA) regulate gene expression through targeted destruction or translational repression of specific messenger RNA in a fundamental biological process called RNA interference (RNAi). The Argonaute proteins, which derive from a highly conserved family of genes found in almost all eukaryotes, are critical mediators of this process. Four AGO genes are present in humans, three of which (AGO 1, 3, and 4) reside in a cluster on chromosome 1p35p34.

Homozygous deletion in TUSC3 causing syndromic intellectual disability: a new patient.

Defects in the TUSC3 gene have been identified in individuals with nonsyndromic autosomal recessive intellectual disability (ARID), due to either point mutations or intragenic deletions. We report on a boy with a homozygous microdeletion 8p22, sizing 203 kb, encompassing the first exon of the TUSC3 gene, detected by SNP-array analysis (Human Gene Chip 6.0; Affymetrix).

Confirmation of chromosomal microarray as a first-tier clinical diagnostic test for individuals with developmental delay, intellectual disability, autism spectrum disorders and dysmorphic features.

Background And Objectives: Submicroscopic chromosomal rearrangements are the most common identifiable causes of intellectual disability and autism spectrum disorders associated with dysmorphic features. Chromosomal microarray (CMA) can detect copy number variants <1 Mb and identifies size and presence of known genes. The aim of this study was to demonstrate the usefulness of CMA, as a first-tier tool in detecting the etiology of unexplained intellectual disability/autism spectrum disorders (ID/ASDs) associated with dysmorphic features in a large cohort of pediatric patients.

6p25 interstitial deletion in two dizygotic twins with gyral pattern anomaly and speech and language disorder.

Submicroscopic 6p25 deletion is now recognized as a clinically identifiable syndrome, characterized by intellectual disability, language impairment, hearing deficit, craniofacial, ophthalmologic, cardiac, and varying central nervous system anomalies. We report on two dyzogotic twins with a maternal segregating hemizygous interstitial deletion on chromosome 6p25.1, spanning 0.

Spectrum of epilepsy and electroencephalogram patterns in Wolf-Hirschhorn syndrome: experience with 87 patients.

To define the spectrum of epilepsy in Wolf-Hirschhorn syndrome (WHS) better, we studied 87 patients (54 females, 33 males; median age 5.6 years; age range 1-25.6 years) with confirmed 4p16.

Update on the clinical features and natural history of Wolf-Hirschhorn (4p-) syndrome: experience with 87 patients and recommendations for routine health supervision.

Wolf-Hirschhorn syndrome (WHS) is a well-known multiple congenital anomalies/mental retardation syndrome, firstly described in 1961 by Cooper and Hirschhorn. Its frequency is estimated as 1/50,000-1/20,000 births, with a female predilection of 2:1. The disorder is caused by partial loss of material from the distal portion of the short arm of chromosome 4 (4p16.

Filippi syndrome: further clinical characterization.

We report on a child with Filippi syndrome who shows syndactyly of fingers and toes, severe pre- and post-natal growth retardation, postnatal microcephaly, epilepsy, and severe mental retardation with speech impairment. Standard cytogenetics, CGH microarray, and molecular analysis of the GJA1 (Cx43) gene coding region were normal. We review the literature and provide additional information delineating the genetic and neurological aspects of the syndrome.

Neuronal migration disorders, genetics, and epileptogenesis.

Several malformation syndromes with abnormal cortical development have been recognized. Specific causative gene defects and characteristic electroclinical patterns have been identified for some. X-linked periventricular nodular heterotopia is mainly seen in female patients and is often associated with focal epilepsy.

Effects of ursodeoxycholic acid on serum liver enzymes in patients with hepatitis C virus-related chronic liver disease.

Objective: To study the effect of ursodeoxycholic acid (UDCA) on serum liver enzyme levels [alanine aminotransferase (ALT) and gamma-glutamyl transferase (GGT)] in 101 patients with hepatitis C virus-related chronic liver disease.

Methods: Forty-nine patients were assigned to receive UDCA (450 mg/day) over a period of 6 months and 52 to receive no treatment.

Results: In the UDCA group, serum ALT and GGT levels significantly improved.

Clinical picture of endemic cretinism in central Apennines (Montefeltro).

Endemic cretinism is still present in an endemic goiter area of the central Apennines (Montefeltro) (goiter prevalence 55%; mean urinary iodine level 39 micrograms/g creatinine). Clinical and biochemical features of patients with myxedematous, neurologic, and mixed cretinism were studied. Also, in this area, as in most other, neurologic cretinism is more prevalent than myxedematous and mixed forms.