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First female with Allan-Herndon-Dudley syndrome and partial deletion of X-inactivation center
Ist Teil von
Neurogenetics, 2021-10, Vol.22 (4), p.343-346
Ort / Verlag
Berlin/Heidelberg: Springer Berlin Heidelberg
Erscheinungsjahr
2021
Link zum Volltext
Quelle
SpringerLink (Online service)
Beschreibungen/Notizen
Allan-Herndon-Dudley is an X-linked recessive syndrome caused by pathogenic variants in the
SLC16A2
gene. Clinical manifestations are a consequence of impaired thyroid metabolism and aberrant transport of thyroid hormones to the brain. Carrier females are generally asymptomatic and may show subtle symptoms of the disease. We describe a female with a complete Allan-Herndon-Dudley phenotype, carrying a de novo 543-kb deletion of the X chromosome. The deletion encompasses exon 1 of the
SLC16A2
gene and
JPX
and
FTX
genes; it is known that the latter two genes participate in the X-inactivation process upregulating
XIST
gene expression. Subsequent studies in the patient demonstrated the preferential expression of the X chromosome with the
JPX
and
FTX
deletion.