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Expanding the Phenotypic Spectrum of Alazami Syndrome: Two Unrelated Spanish Families.
- Source :
-
Neuropediatrics [Neuropediatrics] 2023 Feb; Vol. 54 (1), pp. 31-36. Date of Electronic Publication: 2022 Sep 20. - Publication Year :
- 2023
-
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&#95;699delins27 in the LARP7 gene, in which loss of function is a known mechanism of Alazami syndrome.<br />Competing Interests: None declared.<br /> (Thieme. All rights reserved.)
Details
- Language :
- English
- ISSN :
- 1439-1899
- Volume :
- 54
- Issue :
- 1
- Database :
- MEDLINE
- Journal :
- Neuropediatrics
- Publication Type :
- Academic Journal
- Accession number :
- 36126956
- Full Text :
- https://doi.org/10.1055/a-1947-8411