Paula and Bobby
Parents of Lillie
Cataract 19; CTRCT19
What is Cataract 19; CTRCT19?
Cataract 19; CTRCT19 is a rare disease. It is also known as LIM2.
An inbred Iraqi Jewish family was reported by Pras et al., (2002) with late-onset cortical blue and white opacities in concentric layers. In addition there were nuclear opacities emerging from prominent sutures. They mapped the condition to 19q13.4 and mutations were found in LIM2.
* This information is courtesy of the L M D.
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What gene changes cause Cataract 19; CTRCT19?
The syndrome is inherited in the following inheritance pattern/s:
Autosomal Recessive - Autosomal recessive inheritance means an affected individual receives one copy of a mutated gene from each of their parents, giving them two copies of a mutated gene. Parents, who carry only one copy of the gene mutation will not generally show any symptoms but have a 25% chance of passing the copies of the gene mutations onto each of their children.
In some cases, a genetic syndrome may be the result of a de-novo mutation and the first case in a family. In this case, this is a new gene mutation that occurs during the reproductive process.
OMIM Number - 615277 (please check the OMIM page for updated information)
The syndrome can be caused by mutations in the following gene/s location/s:
LIM2 - 19q13.41
What are the main symptoms of Cataract 19; CTRCT19?
The typical symptoms of the syndrome are:
Autosomal recessive inheritance, Cortical pulverulent cataract
How does someone get tested for Cataract 19; CTRCT19?
The initial testing for Cataract 19; CTRCT19 can begin with facial genetic analysis screening, through the FDNA Telehealth telegenetics platform, which can identify the key markers of the syndrome and outline the type of genetic testing needed. 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.
What is FDNA Telehealth?
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