Patients with Kabuki syndrome have characteristic facial features, short stature, congenital heart defects, skeletal anomalies, immunological abnormalities, and mild to moderate mental retardation. Facial features include long palpebral fissures with eversion of the lower lateral eyelid, sparse and arched eyebrows, depressed nasal tip, and large prominent earlobes. Other features include joint laxity, dental abnormalities, fingertip pads, and renal/urinary tract anomalies.

The University of Chicago Genetic Services is excited to be starting a monthly newsletter to keep our clients informed about our laboratory. We'll use this forum to inform you about the latest testing in our laboratory and any changes in our services. This newsletter should be a great way for us to let you know about great new tests in our laboratory that may really impact your clinical service.  We'll also spotlight members of our incredible staff to help you put faces with the names of our expertise. 

Glucose transporter type 1 deficiency syndrome (GLUT1DS) is characterized by infantile-onset epileptic encephalopathy associated with delayed development, acquired microcephaly, motor incoordination, and spasticity.  Seizures typically begin within the first 4 months of life following a normal birth and gestation.   Glucose concentration in cerebrospinal fluid should be the first test considered in patients suspected of having GLUT1DS.  Hypoglycorrhachia (low CSF glucose, less than 40mg/dl) is practically diagnostic for this disorder.  Mutations of the Solute Carrier Family 2, Member 1

We are now offering testing for the 3 known genes for Centronuclear/Myotubular Myopathy, MTM1, DNM2, and BIN1. 

We are  now offering full gene sequencing of the CASK gene.  Mutations in CASK have been reported in:

• females with X-linked mental retardation and microcephaly with pontine and cerebellar hypoplasia.  These mutations are typically de novo and thought to be lethal in males.
• males with mild to moderate MR with or without nystagmus.  These mutations are typically familial and carrier females are unaffected. 

We are now offering full gene sequencing and deletion/duplication analysis of the MEF2C gene.  Mutations of the MEF2C gene have been identified in patients with severe mental retardation, stereotypic movements, hypotonia, and epilepsy.  Phenotypic overlap exists between patients with MEF2C mutations and atypical Rett syndrome. 

We are now offering full gene sequencing and deletion/duplication analysis for Mowat-Wilson syndrome.  Mowat-Wilson syndrome is characterized by distinctive facial features, which in young children include hypertelorism, medially flared and broad eyebrows, prominent or pointed chin, uplifted earlobes and an opened mouth expression.  Individuals with MWS also present with moderate-to-severe mental retardation, seizures and microcephaly.  Congenital anomalies are also common, including Hirschsprung disease, genitourinary anomalies, congenital heart defects, agenesis of the corpus callosum and

There is broad clinical variability in the severity of Rett syndrome, including a milder variant of Rett syndrome.  Infant girls with Angelman syndrome having seizures and severe speech impairment can resemble girls with Rett syndrome.

Infantile spasms involve momentary flexion of the neck, trunk, or extremities, onsetting within the first year of life and subsiding during late infancy.  Affected children may develop other seizures and have severe developmental delays.  West syndrome is the triad of infantile spasms, hypsarrhythmia, and severe mental retardation.  Early onset and congenital forms of Rett syndrome include infantile spasms or early-onset epileptic seizures.