Alazami syndrome: the first case of papillary thyroid carcinoma: Journal of Human Genetics

I. Ivanovski, S.G. Caraffi, E. Magnani, S. Rosato, M. Pollazzon, L. Matalonga, S. Piana, D. Nicoli, C. Baldo, S. Bernasconi, A. Frasoldati, O. Zuffardi, L. Garavelli

Research output: Contribution to journalArticlepeer-review


Alazami syndrome (MIM#615071) is a rare developmental disorder caused by biallelic variants in the LARP7 gene. Hallmark features include short stature, global developmental delay, and distinctive facial features. To date, 23 patients from 11 families have been reported in the literature. Here we describe a 19-year-old man who, in association with the typical features of Alazami syndrome, was diagnosed at the age of 14 years with papillary thyroid carcinoma, harboring the somatic BRAF V600E mutation. Whole exome sequencing revealed two novel LARP7 variants in compound heterozygosity, whereas only common variants were detected in genes associated with familial nonmedullary thyroid cancer (MIM#188550). LARP7 acts as a tumor suppressor in breast and gastric cancer, and possibly, according to recent studies, in thyroid tumors. Since thyroid cancer is rare among children and adolescents, we hypothesize that the LARP7 variants identified in our patient are responsible for both Alazami syndrome and tumor susceptibility. We also provide an overview of the clinical findings in all Alazami syndrome patients reported to date and discuss the possible pathogenetic mechanism that may underlie this condition, including the role of LARP7 in tumor susceptibility. © 2019, The Author(s), under exclusive licence to The Japan Society of Human Genetics.
Original languageEnglish
Pages (from-to)133-141
Number of pages9
JournalJ. Hum. Genet.
Issue number2
Publication statusPublished - 2020


  • B Raf kinase
  • iodine 131
  • levothyroxine
  • thyroglobulin
  • thyroid peroxidase antibody
  • thyrotropin
  • BRAF protein, human
  • Larp7 protein, human
  • ribonucleoprotein
  • adult
  • Alazami syndrome
  • Article
  • cancer susceptibility
  • case report
  • chromosome analysis
  • clinical article
  • comprehension
  • developmental disorder
  • echocardiography
  • echography
  • follow up
  • frameshift mutation
  • gene
  • gene mutation
  • genetic variability
  • growth hormone deficiency
  • hallux valgus
  • Hashimoto disease
  • heart ventricle septum defect
  • heterozygosity
  • human
  • hydronephrosis
  • hypertelorism
  • joint laxity
  • language development
  • larp7 gene
  • lymph node dissection
  • male
  • microcalcification
  • micrognathia
  • mitral valve regurgitation
  • muscle hypotonia
  • nonsense mediated mRNA decay
  • orchidopexy
  • patient history of surgery
  • prominent ear
  • rare disease
  • recurrent disease
  • scoliosis
  • segregation analysis
  • somatic mutation
  • thyroglobulin blood level
  • thyroid papillary carcinoma
  • thyroidectomy
  • thyrotropin blood level
  • tremor
  • ventricular noncompaction
  • whole exome sequencing
  • young adult
  • diagnostic imaging
  • dwarfism
  • genetic predisposition
  • genetics
  • heterozygote
  • intellectual impairment
  • Italy
  • pathology
  • phenotype
  • thyroid tumor
  • Developmental Disabilities
  • Dwarfism
  • Frameshift Mutation
  • Genetic Predisposition to Disease
  • Heterozygote
  • Humans
  • Intellectual Disability
  • Male
  • Phenotype
  • Proto-Oncogene Proteins B-raf
  • Ribonucleoproteins
  • Thyroid Cancer, Papillary
  • Thyroid Neoplasms
  • Whole Exome Sequencing
  • Young Adult


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