TELO2-related syndrome (You-Hoover-Fong syndrome): Description of 14 new affected individuals and review of the literature.

Date publication

mai 2023

Journal

American journal of medical genetics. Part A

Auteurs

Membres identifiés du Cancéropôle Est :
Pr KUENTZ Paul

Tous les auteurs :
Albokhari D, Pritchard AB, Beil A, Muss C, Bupp C, Grange DK, Delplancq G, Heeley J, Zuteck M, Morrow MM, Kuentz P, Palculict TB, Hoover-Fong JE

Lien Pubmed

https://www.ncbi.nlm.nih.gov/pubmed/36797513

Résumé

You-Hoover-Fong syndrome (YHFS) is an autosomal recessive condition caused by pathogenic variants in the TELO2 gene. Affected individuals were reported to have global developmental delay, intellectual disability, microcephaly, dysmorphic facial features, ocular involvement including cortical visual impairment, strabismus, cataract and rotatory nystagmus, movement disorder, hypertonia and spasticity, balance disturbance and ataxia, and abnormal sleep pattern. Other features reported include poor growth, cleft palate, cardiac malformations, epilepsy, scoliosis, and hearing loss. To date, 12 individuals with YHFS have been reported in the literature. Here we describe 14 new individuals with YHFS from 10 families. Their clinical presentation provides additional support of the phenotype recognized previously and delineates the clinical spectrum associated with YHFS syndrome. In addition, we present a review of the literature including follow-up data on four previously reported individuals with YHFS.

Mots clés

TELO2, YHFS, You-Hoover-Fong syndrome, developmental delay, microcephaly, syndromic intellectual disabilities

Référence

Am J Med Genet A. 2023 05;191(5):1261-1272