Paula and Bobby
Parents of Lillie
Alport syndrome - Unusual Face - Elliptocytosis - Mr
What is Alport syndrome - Unusual Face - Elliptocytosis - Mr?
Alport syndrome - Unusual Face - Elliptocytosis - Mr is a rare disease. It is also known as AMME FACL4 gene mutations and mental retardation MRX68.
Johnson et al., (1998) reported two brothers with an unusual facial appearance, hypotonia and developmental delay, and features of Alport syndrome including sensorineural deafness, and elliptocytosis. A microdeletion was demonstrated around the COL4A5 locus and FACL4, a gene encoding long-chain acyl-CoA synthetase 4 was deleted (Piccini et al., 1998).
The facies were characterised by midface hypoplasia, a flat nasal bridge, hypotelorism, epicanthic folds, anteverted nares and a thin upper lip. There was a high palate and a small chin. There were mild abnormalites of the fingers and toes including second toe clinodactyly and an increased space between the third and fourth fingers and second and first toes. One child had myopia and the other astigmatism. CT brain scanning in one child demonstrated bihemispheric atrophy and a MRI brain scan showed smaller areas of signal drop in the basal ganglia consistent with previous infarction. The mother had haematuria and unilateral sensorineural deafness, but no elliptocytosis. A five year old sister just had microhaematuria.
Meloni et al., (2002) demonstrated two point mutations in the FACL4 gene in two families with severe nonspecific mental retardation mapping to the Xq22.3 region and included in deletions causing the current syndrome.
Longo et al., (2002) studied eight X-linked mental retardation families mapping to Xq22.3. In one with five affected members an FACL4 mutation was detected. Clinical features were poorly described, but mental retardation appeared to b be in the mild to moderate range and there were no specific dysmorphic features reported. One affected male died at the age of eight months. The authors also describe a rapid enzyme test for screening for this disorder. Note the interesting patient reported by Hoischen et al., (2009) with Alport, developmental delay, deafness and some facial dysmorphism - especially a flat mid-face. She was found to have a microdeletion of Xq22.3-q23.
* This information is courtesy of the L M D.
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What gene changes cause Alport syndrome - Unusual Face - Elliptocytosis - Mr?
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.
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.
The syndrome can be caused by mutations in the following gene/s location/s:
What are the main symptoms of Alport syndrome - Unusual Face - Elliptocytosis - Mr?
The typical symptoms of the syndrome are:
How does someone get tested for Alport syndrome - Unusual Face - Elliptocytosis - Mr?
The initial testing for Alport syndrome - Unusual Face - Elliptocytosis - Mr 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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