Gene/Protein
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Enzyme
Compound
Pivot Concepts:
Gene/Protein
Disease
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Drug
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Target Concepts:
Gene/Protein
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Query: UMLS:C0026838 (
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)
6,471
document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)
Biallelic loss of function of
TELO2
gene cause a severe syndromic disease mainly characterized by global developmental delay with poor motor and language acquisitions, microcephaly, short stature, minor facial and limbs anomalies, sleep disorder,
spasticity
, and balance impairment up to ataxia.
TELO2
-related syndrome, also known as You-Hoover-Fong Syndrome, is extremely rare and since its first description in 2016 only 8 individuals have been reported, all showing a severe disability. The causative gene is member of the big molecular family of genes responsible for cells proliferation and DNA stability. We describe the case of two sisters, carrying the homozygous p.Arg609His variant of the gene, who present a milder phenotype of
TELO2
-related syndrome. Such variant has been reported once in a more severely affected patient, in compound heterozygous state associated with the p.Pro260Leu variant, suggesting a possible role of the p.Arg609His variant in determining milder phenotypes. Comparing the siblings with all previously reported cases, we offer an overview on the condition and discuss
TELO2
genetic interactions, in order to further explore the molecular bases of this recently described disorder.
...
PMID:Milder presentation of TELO2-related syndrome in two sisters homozygous for the p.Arg609His pathogenic variant. 3330 81
