Expanding the Phenotypic Spectrum of Alazami Syndrome: Two Unrelated Spanish Families

 

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Abstract

Alazami syndrome is a rare disorder with an autosomal recessive inheritance caused by pathogenic biallelic variants in the LARP7 gene. Clinically, it is mainly characterized by short stature, intellectual disability, and dysmorphic facial features. However, the phenotype is not yet well-defined because less than 50 cases have been described to date. Here, we report three new patients from two unrelated Spanish families who, in addition to the defined features of Alazami syndrome, also exhibit unique features that broaden the phenotypic spectrum of the syndrome. Moreover, we describe the novel frameshift variant c.690_699delins27 in the LARP7 gene, in which loss of function is a known mechanism of Alazami syndrome.

Note

This work has been carried out at the Genetics Service of the Hospital Universitario 12 de Octubre in Madrid.

Publication History

Received: 30 June 2022

Accepted: 30 August 2022

Accepted Manuscript online:
20 September 2022

Article published online:
23 December 2022

© 2022. Thieme. All rights reserved.

Georg Thieme Verlag KG
Rüdigerstraße 14, 70469 Stuttgart, Germany

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