Mental Retardation, Autosomal Dominant 19 (MRD19)

What is Mental Retardation, Autosomal Dominant 19 (MRD19)?

This rare disease is also known as neurodevelopmental disorder with spastic diplegia and visual defects.

It is a rare neurodevelopmental condition, the main symptoms of which include intellectual disability, symptoms related to spasticity and eye and visual issues.

Mental retardation is now referred to as intellectual disability (intellectual developmental disorder).

What gene changes cause Mental Retardation, Autosomal Dominant 19 (MRD19)?

Mutations in the CTNNB1 cause the syndrome.

It is inherited in an autosomal dominant pattern.

In the case of autosomal dominant inheritance just one parent is the carrier of the gene mutation, and they have a 50% chance of passing it on to each of their children. Syndromes inherited in an autosomal dominant inheritance are caused by just one copy of the gene mutation.

What are the main symptoms of Mental Retardation, Autosomal Dominant 19 (MRD19)?

Intellectual disability and global development delay are two major symptoms of the syndrome. Behavioral issues are recognized as symptoms as well.

Low muscle tone, affecting muscle coordination, is another symptom of this rare disease.

Unique craniofacial features and a very small head are characteristic of the syndrome.

Visual and eye issues are also main symptoms. These might include crossed eyes, issues affecting the optic nerves which transmit information from the eyes to the brain and other anomalies affecting the retina of the eye or eyes.

Spasticity particularly in the lower limbs, is also a prominent feature.

How does someone get tested for Mental Retardation, Autosomal Dominant 19 (MRD19)?

The initial testing for Mental Retardation, Autosomal Dominant 19 syndrome can begin with facial analysis screening, through the FDNA Telehealth telegenetics platform, which can identify the key markers of the syndrome and outline the need for further testing. A consultation with a genetic counselor and then a geneticist will follow.

Based on this clinical consultation with a geneticist, the different options for genetic testing will be shared and consent will be sought for further testing.

Medical information on Mental Retardation, Autosomal Dominant 19 (MRD19)

An intellectually disabled female patient had depigmentation of both hair (it was also sparse) and skin (Dubruc et al., 2014). There was postnatal microcephaly and she became spastic and ataxic. A microdeletion at 3p22 was found and CTNNB1 was deleted.
Sixteen new patients were reported by Kuechler et al., (2015). They were initially floppy, had delayed motor milestones and then developed lower limb spasticity. The was severe speech impairment. Microcephaly occurred in 81%. Craniofacially, there was a broad nasal tip, small alae nasi, a long or flat philtrum and thin upper lip. In older individuals, the nose appeared longer and the columella more prominent. None had seizures. Fifty-seven percent had behavioural problems (temper tantrums, aggression, self aggression or autistic features).

* This information is courtesy of the L M D.
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