Refining the phenotype of SINO syndrome: A comprehensive cohort report of 14 novel cases.

doi:10.1016/j.gim.2024.101219

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Article

Refining the phenotype of SINO syndrome: A comprehensive cohort report of 14 novel cases.

Genetics in medicine : official journal of the American College of Medical Genetics - 1 Nov 2024

Alstrup Morten, Cesca Fabrizia, Krawczun-Rygmaczewska Alicja, López-Menéndez Celia, Pose-Utrilla Julia, Castberg Filip Christian, Bjerager Mia Ortved, Finnila Candice, Kruer Michael C, Bakhtiari Somayeh, Padilla-Lopez Sergio, Manwaring Linda, Keren Boris, Afenjar Alexandra, Galatolo Daniele, Scalise Roberta, Santorelli Fillippo M, Shillington Amelle, Vezain Myriam, Martinovic Jelena, Stevens Cathy, Gowda Vykuntaraju K, Srinivasan Varunvenkat M, Thiffault Isabelle, Pastinen Tomi, Baranano Kristin, Lee Angela, Granadillo Jorge, Glassford Megan R, Keegan Catherine E, Matthews Nicole, Saugier-Veber Pascale, Iglesias Teresa, Østergaard Elsebet

Abstract excerpt

PURPOSE: Spastic paraplegia, intellectual disability, nystagmus, and obesity syndrome (SINO) is a rare autosomal dominant condition caused by heterozygous variants in KIDINS220. A total of 12 individuals are reported, comprising 8 with SINO and 4 with an autosomal recessive condition attributed to biallelic KIDINS220 variants. METHODS: In our international cohort, we have included 14 individuals, carrying 13...

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Identifiers

PMID: 39033379
DOI: 10.1016/j.gim.2024.101219

Genes

KIDINS220

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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