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

Autor:	Soengas-Gonda E; Centre for Biomedical Network Research on Rare Diseases (CIBERER), ISCIII, Madrid, Spain.; Mitochondrial and Neuromuscular Disorders Group, Hospital 12 de Octubre Health Research Institute (imas12), Madrid, Spain.; UDISGEN (Unidad de Dismorfología y Genética), 12 de Octubre University Hospital, Madrid, Spain., Pérez de la Fuente R; UDISGEN (Unidad de Dismorfología y Genética), 12 de Octubre University Hospital, Madrid, Spain.; Department of Genetics, 12 de Octubre University Hospital, Madrid, Spain., Arteche-López A; UDISGEN (Unidad de Dismorfología y Genética), 12 de Octubre University Hospital, Madrid, Spain.; Department of Genetics, 12 de Octubre University Hospital, Madrid, Spain., Gómez-Cano MLÁ; UDISGEN (Unidad de Dismorfología y Genética), 12 de Octubre University Hospital, Madrid, Spain.; Department of Pediatrics, Endocrinology Unit, 12 de Octubre University Hospital, Madrid, Spain., Quesada-Espinosa JF; UDISGEN (Unidad de Dismorfología y Genética), 12 de Octubre University Hospital, Madrid, Spain.; Department of Genetics, 12 de Octubre University Hospital, Madrid, Spain., Palma Milla C; UDISGEN (Unidad de Dismorfología y Genética), 12 de Octubre University Hospital, Madrid, Spain.; Department of Genetics, 12 de Octubre University Hospital, Madrid, Spain., Lezana Rosales JM; UDISGEN (Unidad de Dismorfología y Genética), 12 de Octubre University Hospital, Madrid, Spain.; Department of Genetics, 12 de Octubre University Hospital, Madrid, Spain., Mayo de Andrés S; UDISGEN (Unidad de Dismorfología y Genética), 12 de Octubre University Hospital, Madrid, Spain.; Department of Genetics, 12 de Octubre University Hospital, Madrid, Spain., Sánchez-Calvín MT; UDISGEN (Unidad de Dismorfología y Genética), 12 de Octubre University Hospital, Madrid, Spain.; Department of Genetics, 12 de Octubre University Hospital, Madrid, Spain., Gómez-Rodríguez MJ; UDISGEN (Unidad de Dismorfología y Genética), 12 de Octubre University Hospital, Madrid, Spain.; Department of Genetics, 12 de Octubre University Hospital, Madrid, Spain., Sierra Tomillo O; Department of Genetics, 12 de Octubre University Hospital, Madrid, Spain., Juarez Rufian A; Department of Genetics, 12 de Octubre University Hospital, Madrid, Spain., Ramos Gomez P; Department of Genetics, 12 de Octubre University Hospital, Madrid, Spain., Herrero-Forte C; Clinical Genetics, Clinical Analysis Service, Molecular Diagnostics Unit, Institute of Laboratory Medicine (UDM-IML), Clinico San Carlos University Hospital, Madrid, Spain.; San Carlos Clinical Research Institute (IdISSC), Madrid, Spain., Fenollar-Cortés M; Clinical Genetics, Clinical Analysis Service, Molecular Diagnostics Unit, Institute of Laboratory Medicine (UDM-IML), Clinico San Carlos University Hospital, Madrid, Spain.; San Carlos Clinical Research Institute (IdISSC), Madrid, Spain., Cotarelo-Pérez C; Clinical Genetics, Clinical Analysis Service, Molecular Diagnostics Unit, Institute of Laboratory Medicine (UDM-IML), Clinico San Carlos University Hospital, Madrid, Spain.; San Carlos Clinical Research Institute (IdISSC), Madrid, Spain., García Ron A; Neuropaediatrics Unit, Child and Adolescent Institute, Clinico San Carlos University Hospital, Madrid, Spain., Pérez Rodríguez O; Department of Pediatrics, Clinico San Carlos University Hospital, Madrid, Spain., Oancea-Ionescu R; Clinical Genetics, Clinical Analysis Service, Molecular Diagnostics Unit, Institute of Laboratory Medicine (UDM-IML), Clinico San Carlos University Hospital, Madrid, Spain.; San Carlos Clinical Research Institute (IdISSC), Madrid, Spain., Moreno-García M; UDISGEN (Unidad de Dismorfología y Genética), 12 de Octubre University Hospital, Madrid, Spain.; Department of Genetics, 12 de Octubre University Hospital, Madrid, Spain.
Jazyk:	angličtina
Zdroj:	Neuropediatrics [Neuropediatrics] 2023 Feb; Vol. 54 (1), pp. 31-36. Date of Electronic Publication: 2022 Sep 20.
DOI:	10.1055/a-1947-8411
Abstrakt:	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. Competing Interests: None declared. (Thieme. All rights reserved.)
Databáze:	MEDLINE
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