MYT1L gene syndrome

• During a medical consultation, genetic analyzes may be indicated .

 

• 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.

 

• 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.​

 

• 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 .

 

• 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.

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  It is to be emphasized  :

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📍 "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. "📍