title: Compound heterozygous variants in the LARP7 gene as a cause of Alazami syndrome in a Caucasian female with significant failure to thrive, short stature, and developmental disability.
abstract: Alazami syndrome is an autosomal recessive disease characterized by primordial dwarfism, distinct dysmorphic features, and severe intellectual disability. Since it was first identified in a large consanguineous Arabic family in 2012, additional cases have not been published in the literature. We present a 2-year-old Northern European/Caucasian female with short stature, failure to thrive, and developmental delay. Whole exome sequencing (WES) identified two novel pathogenic variants in LARP7 (c.213_214dup and c.651_655del), indicating a diagnosis of Alazami syndrome. The case report describes a novel genotypic and phenotypic presentation of Alazami syndrome, contributing to the current knowledge of the condition as well as the expansion of differential diagnoses for growth restriction and intellectual disability.
authors.affiliation: Division of Medical Genetics, Department of Pediatrics, Children's Hospital, Los Angeles, California.
authors.forename: Tina T
authors.initials: TT
authors.lastname: Ling
authors.affiliation: Division of Medical Genetics, Department of Pediatrics, Children's Hospital, Los Angeles, California.|University of Southern California, Keck School of Medicine, Los Angeles, California.
authors.forename: Susanna
authors.initials: S
authors.lastname: Sorrentino
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics*; D001483:Base Sequence; D002675:Child, Preschool; D002658:Developmental Disabilities / Q000235:genetics*; D004392:Dwarfism / Q000235:genetics*; D059472:Exome / Q000235:genetics; D005260:Female; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics*; D010375:Pedigree; D012261:Ribonucleoproteins / Q000235:genetics*; D017422:Sequence Analysis, DNA
chemical_list: C528908:Larp7 protein, human; D012261:Ribonucleoproteins
keywords: Alazami syndrome; LARP7; intellectual disability; primordial dwarfism; short stature