Alpha-Thalassemia/mental Retardation syndrome, X-Linked (ATRX)

What is Alpha-Thalassemia/mental Retardation syndrome, X-Linked (ATRX)?

This rare disease is a genetic condition that affects mainly males. There are more than 200 reported cases to date.

The main features of the syndrome include severe intellectual disability, developmental delay, and unique facial features.

What gene changes cause Alpha-Thalassemia/mental Retardation syndrome, X-Linked (ATRX)?

Mutations to the ATRX gene are responsible for the syndromes. Mutations to this gene are then believed to affect the HBA1 and HBA2 genes, defects in which are responsible for alpha thalassemia.

As an X-linked recessive pattern inherited condition, males can not pass the mutation onto their sons.

Syndromes inherited in an X-linked recessive pattern generally only affect males. Males only have one X chromosome, and so one copy of a gene mutation on it causes the syndrome. Females, with two X chromosomes, only one of which will be mutated, are not likely to be affected.

What are the main symptoms of Alpha-Thalassemia/mental Retardation syndrome, X-Linked (ATRX)?

Intellectual disability and delayed development are serious symptoms of the syndrome. Most individuals will have very limited to zero speech and delayed motor skills.

Common facial features include widely spaced eyes, small nose, unturned nostrils, and low-set ears. Facial features become coarser over time, leading to a flatter face and shortened nose. A very small head, short stature and skeletal abnormalities are also common presenting features.

Health conditions related to the condition include mild alpha thalassemia, pale skin, weakness and fatigue. Reflux and severe constipation are also common.

How does someone get tested for Alpha-Thalassemia/mental Retardation syndrome, X-Linked (ATRX)?

The initial testing for Alpha-Thalassemia/mental Retardation Syndrome, X-Linked 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.   

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