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Case Reports
. 2023 Dec;191(12):2813-2818.
doi: 10.1002/ajmg.a.63362. Epub 2023 Aug 2.

A 22q13.1 duplication in mosaicism including SOX10

William Bertani-Torres  1   2 , Margaux Serey-Gaut  3   4 , Judite de Oliveira  3 , Christine Bole  5 , Mélanie Parisot  5 , Patrick Nistschké  1   6 , Marie-Laure Maurin  3 , Jean-Michel Lapierre  3 , Natalie Loundon  7 , Kahina Belhous  8 , Nadège Bondurand  1   2 , Sandrine Marlin  2   3   4 , Véronique Pingault  1   2   3
Affiliations
Case Reports

A 22q13.1 duplication in mosaicism including SOX10

William Bertani-Torres et al. Am J Med Genet A. 2023 Dec.

Abstract

Waardenburg syndrome (WS) is characterized by the association of sensorineural hearing loss and pigmentation abnormalities. Among the four types, WS Type 2 (WS2) is the only one without a remarkable distinguishing feature. Here, we report a patient initially diagnosed with WS2 who exhibits a 446 kb mosaic duplication in chromosome 22q13.1, encompassing SOX10, and detected using whole genome sequencing in a trio. The patient, a 46,XY boy, presents with profound bilateral sensorineural hearing loss, right heterochromia iridium, left bright blue iris, and skin-depigmented areas in the abdomen and limbs. Vestibular and imaging tests are normal, without inner ear or olfactory bulb malformations. Bilateral cochlear implantation did not prevent language and speech delays. Moderate congenital chronic constipation and neurodevelopmental difficulties were also present. Given the few genes included in this duplicated region (only one OMIM gene with dominant inheritance), this report provides further delineation of the phenotype related to duplications encompassing the entire SOX10 gene.

Keywords: SOX10; Waardenburg syndrome; chromosome 22; duplication.

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References

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