A Novel Mutation in in a Patient with Axenfeld-Rieger Syndrome.

Axenfeld-Rieger syndrome is a rare autosomal dominant condition. Anomalies include anterior segment dysgenesis of the eye, dental anomalies, maxillary hypoplasia, periumbilical anomalies, and congenital heart defects. We report a patient with Peters anomaly, dysmorphic features, congenital heart defect, umbilical hernia, short stature, and developmental delay.

RBPJ mutations identified in two families affected by Adams-Oliver syndrome.

Through exome resequencing, we identified two unique mutations in recombination signal binding protein for immunoglobulin kappa J (RBPJ) in two independent families affected by Adams-Oliver syndrome (AOS), a rare multiple-malformation disorder consisting primarily of aplasia cutis congenita of the vertex scalp and transverse terminal limb defects. These identified mutations link RBPJ, the primary transcriptional regulator for the Notch pathway, with AOS, a human genetic disorder. Functional assays confirmed impaired DNA binding of mutated RBPJ, placing it among other notch-pathway proteins altered in human genetic syndromes.

Chromosome 2q terminal deletion: report of 6 new patients and review of phenotype-breakpoint correlations in 66 individuals.

We report a new patient with terminal deletion of chromosome 2 with breakpoint at 2q36 and five additional new patients with 2q terminal deletion with breakpoint at 2q37. Hemidiaphragmatic hernia is a novel finding in one patient with a breakpoint at 2q37.1.

Genetic counseling.

Medical professionals and the public are rapidly becoming aware of the overwhelming influence that an individual's genetic constitution has on fetal health and mortality, congenital malformations, cancer and other chronic diseases. Great strides have been made in recognizing and understanding modes of inheritance that had not previously been well described. Besides single-gene disorders, genetic conditions are known to be caused by a variety of different mechanisms: chromosome microdeletions and fragility, multifactorial inheritance, mitochondrial genes, triplet repeat expansions, imprinting, and uniparental disomy.