SOX11-related syndrome: report on a new case and review

Victor Wakim (1) , Pratibha Nair (2) , Valérie Delague (3) , Sami Bizzari (2) , Mahmoud Taleb Al-Ali (2) , Christel Castro (3) , Alicia Gambarini (4) , Stephany El-Hayek (2) , André Megarbane (1, 4)

1 Human Genetics Department [LAU Gilbert and Rose-Marie Chagoury School of Medicine]
2 CAGS - Centre for Arab Genomic Studies
3 MMG - Marseille medical genetics - Centre de génétique médicale de Marseille
4 Institut Jérôme Lejeune

The SOX 11gene is a member of the SOX (SRY-related HMG-box) family of transcription factors involved in the regulation of embryonic development and in the determination of cell fate. Recently, SOX11variants were linked to cases of overlapping syndromes collectively termed SSRIDDs, which are mainly associated with variants in BAF complex genes. Patients with these various syndromes exhibit a spectrum of features including developmental delay, intellectual disability, feeding difficulties, hypotonia, shortstature, microcephaly, fifth finger hypoplasia, behavioural problems and seizures. We report a novel de novo mutation in SOX11, c.146T>A [p.Ile49Asn], found by exome sequencing in a middle eastern child with intellectual deficiency, developmental delay, microcephaly, thick scalp hairs, long eyelashes and eyebrows, and low-set ears. No abnormalities of fingers were noted. The SOX11-related SSRIDD and a review of SOX11reported cases are discussed.

Mots clés: Dysmorphology; SOX11; Variant; Exome

Domaines: Génétique; Médecine humaine et pathologie

Victor Wakim, Pratibha Nair, Valérie Delague, Sami Bizzari, Mahmoud Taleb Al-Ali, et al.. SOX11-related syndrome: report on a new case and review. Clinical Dysmorphology, 2021, 30 (1), pp.44-49. ⟨10.1097/MCD.0000000000000348⟩. ⟨hal-03147650⟩