000			03050nam a22004577a 4500
001			20240607194922.0
003			20240607194922.0
005			20240607195801.0
008			240607b |||||||| |||| 00| 0 eng d
022			_a EISSN 2073-4425
040			_cddc
041			_aEnglish
100			_qAndrea Pietrobattista
245			_aThe Expanding Phenotype of ZTTK Syndrome Due to the Heterozygous Variant of SON Gene Focusing on Liver Involvement _bPatient Report and Literature Review
260			_aMwanza, Tanzania : _bCatholic University of Health and Allied Sciences [CUHAS-Bugando] : _c2023
300			_aPages 01-09
300			_aIncludes References
490			_v Genes 2023, 14, 739.
520			_aAbstract : Zhu–Tokita–Takenouchi–Kim (ZTTK) syndrome, an intellectual disability syndrome first described in 2016, is caused by heterozygous loss-of-function variants in SON. Haploinsufficiency in SON may affect multiple genes, including those involved in the development and metabolism of multiple organs. Considering the broad spectrum of SON functions, it is to be expected that pathogenic variants in this gene can cause a wide spectrum of clinical symptoms. We present an additional ZTTK syndrome case due to a de novo heterozygous variant in the SON gene (c.5751_5754delAGTT). The clinical manifestations of our patient were similar to those present in previously reported cases; however, the diagnosis of ZTTK syndrome was delayed for a long time and was carried out during the diagnostic work-up of significant chronic liver disease (CLD). CLD has not yet been reported in any series; therefore, our report provides new information on this rare condition and suggests the expansion of the ZTTK syndrome phenotype, including possible liver involvement. Correspondingly, we recommend screening patients with SON variants specifically for liver involvement from the first years of life. Once the CLD has been diagnosed, an appropriate follow-up is mandatory, especially considering the role of SON as an emerging player in cancer development. Further studies are needed to investigate the role of SON haploinsufficiency as a downregulator of essential genes, thus potentially impairing the normal development and/or functions of multiple organs.
600			_xchronic liver disease
600			_xZTTK syndrome
600			_xSON mutation
600			_x brain malformations
600			_xdevelopmental delay
700			_qLuca Della Volpe
700			_qPaola Francalanci
700			_qLorenzo Figà Talamanca
700			_qLidia Monti
700			_qFrancesca Romana Lepri
700			_qMaria Sole Basso
700			_qDaniela Liccardo
700			_qClaudia Della Corte
700			_qAntonella Mosca
700			_qTommaso Alterio
700			_qSilvio Veraldi
700			_qFrancesco Callea
700			_qAntonio Novelli
700			_qGiuseppe Maggiore
856			_uhttps://doi.org/10.3390/genes14030739 _yhttps://doi.org/10.3390/genes14030739
942			_2ddc _cVM _n0
999			_c27990 _d27990