AIFM1-Related Disorder

What is AIFM1-Related Disorder?

AIFM1-Related Disorder is a rare disease.
There are currently no additional known synonyms for this rare genetic disease.

Two cousins, the offspring of 2 monozygotic sisters, had similar conditions (Ghezzi et al., 2010). Both were normal for the first months of life, then deteriorated with extrapyramidal features, muscle weakness, a neuropathy and an encephalopathy. Both died. One had ragged red fibers, lactates were abnormal and complexes II and IV activities were below normal. There was mitochondrial DNA depletion in muscle but not in fibroblasts. OXPHOS was impaired. Mutations were found in AIFM1 a gene encoding apiptosis-inducing factor.

Three siblings reported by Berger et al., (2011) had ventriculomegaly early in gestation. Using linkage analysis followed by exome sequencing mutations were found in AIFM1. One of te sibs died from a cardiomyopathy. Not the case reported by Ardissone et al., (2015) with a progressive cerebellar ataxia, deafness, optic atrophy and a retinopathy.

Morton et al. (2017) described a patient with a rapidly progressing mitochondrial encephalopathy, myopathy, and peripheral neuropathy with axonal degeneration due to hemizygous missense mutation in the AIFM1 gene. Clinical characteristics were recurrent episodes of respiratory failure with metabolic acidosis, hyperglycemia, and seizures. Laboratory findings included increased urine ketones and lactic, pyruvic, fumaric, and malic acids and transient increase of blood metabolites of branched chain amino acids. Brain MRI/MRA demonstrated T2 hyperintensity in the bilateral anteromedial thalami. Electroencephalogram was suggestive of a moderate diffuse encephalopathy. Electromyography showed moderately severe axonal and sensorimotor polyneuropathy. The patient died at four months due to respiratory failure. Post mortem pathology showed cerebral vacuolization, white matter gliosis, and hypomyelination; muscle biopsy showed subsarcolemmal accumulation, ragged-red fibers and cytoplasmic vacuolization. Additional findings were diffuse liver microvesicular steatosis and follicular bronchiolitis.

Miyake et al., (2017) described 12 males from six families with X-linked hypomyelination with spondylometaphyseal dysplasia due to hemizygous missense mutations in the AIFM1 gene. Age of onset was between six months and six years. Clinical characteristics included developmental delay with regression, weakness and spasticity, ataxia, and nystagmus. Skeletal abnormalities were short stature, enlarged joints, scoliosis, brachycephaly, brachydactyly, coned epiphyses with metaphyseal flaring, vertebral endplate irregularity with anterior central beaking and posterior scalloping of lumbar vertebrae, hip luxation, and osteopenia.

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* This information is courtesy of the L M D.

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What gene changes cause AIFM1-Related Disorder?

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 AIFM1-Related Disorder?

The typical symptoms of the syndrome are:

How does someone get tested for AIFM1-Related Disorder?

The initial testing for AIFM1-Related Disorder 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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