Paula and Bobby
Parents of Lillie
Alport syndrome - Intellectual Deficit - Midface Hypoplasia - Elliptocytosis
What is Alport syndrome - Intellectual Deficit - Midface Hypoplasia - Elliptocytosis?
Alport syndrome - Intellectual Deficit - Midface Hypoplasia - Elliptocytosis is a rare disease. It is also known as Alport Syndrome, Mental Retardation, Midface Hypoplasia, And Elliptocytosis AMME Ats-mr Chromosome Xq22.3 Telomeric Deletion Syndrome.
Kawakami et al., (1990) reported a single case of an Alport-like syndrome. It differed in tht the patient was mentally handicapped, and the deafness at 4 years was earler than most with Alport. Goodpasture antigen and amyloid P component were found in the glomerular basement membrane. The child had a cleft palate. 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.
Robson et al., (1994) reported two brothers and a maternal uncle with a syndrome resembling Alport syndrome, but with associated macrocephaly and mental retardation. The two affected brothers had sensorineural hearing loss. Renal biopsy in one brother and the uncle showed basement membrane thickening and foam cell infiltration compatible with hereditary nephritis. One case also had a proliferative glomerulonephritis with crescent formation consistent with post-streptococcal glomerulonephritis.
Jonsson 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. 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 micro-haematuria.
* This information is courtesy of the L M D.
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What gene changes cause Alport syndrome - Intellectual Deficit - Midface Hypoplasia - Elliptocytosis?
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.
OMIM Number - 300194 (please check the OMIM page for updated information)
The syndrome can be caused by mutations in the following gene/s location/s:
AMMECR1 - Xq23
ACSL4 - Xq23
What are the main symptoms of Alport syndrome - Intellectual Deficit - Midface Hypoplasia - Elliptocytosis?
The typical symptoms of the syndrome are:
Increased number of teeth, Tapered finger, Muscular hypotonia, Intellectual disability, Anteverted nares, Myopia, Abnormal aortic valve morphology, Abnormality of the metaphysis, Downslanted palpebral fissures, Elliptocytosis, Malar flattening, Midface retrusion, Strabismus, Thick lower lip vermilion, Thin vermilion border, Renal insufficiency, Proteinuria, Patent ductus arteriosus, Hearing impairment, Hematuria, Depressed nasal bridge, Glomerulopathy, Cognitive impairment
How does someone get tested for Alport syndrome - Intellectual Deficit - Midface Hypoplasia - Elliptocytosis?
The initial testing for Alport syndrome - Intellectual Deficit - Midface Hypoplasia - Elliptocytosis 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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