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Novel SETBP1 D874V adjacent to the degron causes canonical schinzel-giedion syndrome: a case report and review of the literature.
Zheng, Jing; Gu, Meiqun; Xiao, Shasha; Li, Chongzhen; Mi, Hongying; Xu, Xiaoyan.
Affiliation
  • Zheng J; Department of Pediatrics, The First People's Hospital of Yunnan Province, 157 Jinbi Road, Xishan District, Kunming, 650032, Yunnan Province, China.
  • Gu M; The Affiliated Hospital of Kunming University of Science and Technology, Kunming, China.
  • Xiao S; Department of Pediatrics, The First People's Hospital of Yunnan Province, 157 Jinbi Road, Xishan District, Kunming, 650032, Yunnan Province, China.
  • Li C; The Affiliated Hospital of Kunming University of Science and Technology, Kunming, China.
  • Mi H; Department of Pediatrics, The First People's Hospital of Yunnan Province, 157 Jinbi Road, Xishan District, Kunming, 650032, Yunnan Province, China.
  • Xu X; The Affiliated Hospital of Kunming University of Science and Technology, Kunming, China.
BMC Pediatr ; 24(1): 309, 2024 May 06.
Article in En | MEDLINE | ID: mdl-38711130
ABSTRACT
Schinzel-Giedion syndrome (SGS) is a severe multisystem disorder characterized by distinctive facial features, profound intellectual disability, refractory epilepsy, cortical visual impairment, hearing loss, and various congenital anomalies. SGS is attributed to gain-of-function (GoF) variants in the SETBP1 gene, with reported variants causing canonical SGS located within a 12 bp hotspot region encoding SETBP1 residues aa868-871 (degron). Here, we describe a case of typical SGS caused by a novel heterozygous missense variant, D874V, adjacent to the degron. The female patient was diagnosed in the neonatal period and presented with characteristic facial phenotype (midface retraction, prominent forehead, and low-set ears), bilateral symmetrical talipes equinovarus, overlapping toes, and severe bilateral hydronephrosis accompanied by congenital heart disease, consistent with canonical SGS. This is the first report of a typical SGS caused by a, SETBP1 non-degron missense variant. This case expands the genetic spectrum of SGS and provides new insights into genotype-phenotype correlations.
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Abnormalities, Multiple / Hand Deformities, Congenital / Carrier Proteins / Mutation, Missense / Nails, Malformed Limits: Female / Humans / Newborn Language: En Journal: BMC Pediatr Journal subject: PEDIATRIA Year: 2024 Document type: Article Affiliation country: China Country of publication: Reino Unido

Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Abnormalities, Multiple / Hand Deformities, Congenital / Carrier Proteins / Mutation, Missense / Nails, Malformed Limits: Female / Humans / Newborn Language: En Journal: BMC Pediatr Journal subject: PEDIATRIA Year: 2024 Document type: Article Affiliation country: China Country of publication: Reino Unido