Paula and Bobby
Parents of Lillie
Alport syndrome, X-Linked; ATS
What is Alport syndrome, X-Linked; ATS?
Alport syndrome, X-Linked; ATS is a rare disease. It is also known as Chromosome Xq22.3-Q23 - Microdeletion Nephropathy And Deafness, X-linked.
Alport syndrome is characterized by microscopic hematuria, proteinuria and progressive renal insufficiency. Inheritance pattern can be X-linked, autosomal dominant or autosomal recessive. Progressive sensorineural hearing loss appears in early adolescence. Eye abnormalities are common and include anterior lenticonus, macular abnormalities, posterior polymorphous dystrophy and corneal erosions. In autosomal dominant Alport syndrome ocular involvement is usually absent. The disorder is caused by mutations in COL4A3, COL4A4, and COL4A5.
* This information is courtesy of the L M D.
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What gene changes cause Alport syndrome, X-Linked; ATS?
The syndrome is inherited in the following inheritance pattern/s:
X-Linked Recessive - 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.
Microdeletion - Microdeletion inheritance occurs when there is a deletion of several genes on a chromosome. The specific chromosome on which the deletions occur will determine the syndrome they cause.
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 - 301050 (please check the OMIM page for updated information)
The syndrome can be caused by mutations in the following gene/s location/s:
COL4A5 - Xq22.3
COL4A3 - 2q36.3
MYH9 - 22q12.3
What are the main symptoms of Alport syndrome, X-Linked; ATS?
The typical symptoms of the syndrome are:
Heterogeneous, X-linked dominant inheritance, Progressive, Anterior lenticonus, Diffuse glomerular basement membrane lamellation, Sensorineural hearing impairment, Proteinuria, Microscopic hematuria, Myopia, Thrombocytopenia, Hypoparathyroidism, Nephrotic syndrome, Ichthyosis, Hypertension, Developmental cataract, Diffuse leiomyomatosis, Stage 5 chronic kidney disease, Corneal erosion, Nephritis
How does someone get tested for Alport syndrome, X-Linked; ATS?
The initial testing for Alport syndrome, X-Linked; ATS 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.
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