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SUMMARY AND DESCRIPTION AVAILABLE IN ENGLISH AND FRENCH
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Rare genetic disease
On the region of chromosome 2p25.3
Including the MYT1L gene
In the form of a deletion or a mutation
Inherited from a symptomatic parent or "de novo"
MYT1L gene syndrome
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During a medical consultation, genetic analyzes may be indicated .
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The genetic analyzes can be carried out on the patient alone or, in trio, on the patient and his parents.
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Two types of gene mutations MYT1L can be found:
- Deletions : loss of part or all of the gene
- Point variations : anomalies in the gene sequence
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The high-throughput sequencing technique, or NGS for next-generation sequencing, is used to identify point variations in the gene . It brings together the sequencing of the exome or the genome. Analysis using a CGH-array or DNA chip technique makes it possible to identify the deletions of MYT1L.
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In the context of the syndrome linked to the MYT1L gene, deletions and variations in the sequence of the gene are responsible for one and the same pathology.
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A person with this syndrome has 50% probability of transmitting it to its descendants. For a non-carrier couple having had a first child carrying a so-called anomaly " de novo » , The recurrence for a next pregnancy is very low .
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In the event of a request for genetic counseling, only a targeted genetic examination can determine the status of the fetus . Pregnancy is often unremarkable.
It is to be emphasized :
📍 "Duplications of the MYT1L gene are at the origin of a pathology which currently seems different from that linked to deletions / variations of sequence, even if certain clinical aspects may be similar.
Studies are underway to better understand the physio-pathological mechanisms linked to duplications and thus to specify the phenotype of this pathology. "📍