Van Maldergem syndrome and Hennekam syndrome: Further delineation of allelic phenotypes
| Autor: | Ivan Ivanovski, Raoul C.M. Hennekam, Valeria Polizzi, Mahboubeh Mansouri, Livia Garavelli, Marzia Pollazzon, Marielle Alders, Zahra Chavoshzadeh, Susan Akbaroghli, Simonetta Rosato, Stefano Giuseppe Caraffi, Giancarlo Gargano, Chiara Gelmini |
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| Přispěvatelé: | ARD - Amsterdam Reproduction and Development, ACS - Pulmonary hypertension & thrombosis, Human Genetics, APH - Quality of Care, Paediatric Genetics |
| Rok vydání: | 2018 |
| Předmět: |
Joint Instability
Male 0301 basic medicine Pediatrics medicine.medical_specialty Foot Deformities Congenital Genotype Hearing loss Bone and Bones Craniofacial Abnormalities 03 medical and health sciences Intellectual Disability Intellectual disability Genetics medicine Humans Abnormalities Multiple Allele Child Alleles Genetic Association Studies Genetics (clinical) Comparative Genomic Hybridization business.industry Siblings Tumor Suppressor Proteins Calcium-Binding Proteins Infant Newborn Brain Facies High-Throughput Nucleotide Sequencing Infant Cadherins medicine.disease Phenotype Radiography Osteopenia Hennekam syndrome 030104 developmental biology Lymphedema Neonatal hypotonia Child Preschool Mutation Female medicine.symptom business Hand Deformities Congenital |
| Zdroj: | American journal of medical genetics. Part A, 176(5), 1166-1174. Wiley-Liss Inc. |
| ISSN: | 1552-4833 1552-4825 |
| DOI: | 10.1002/ajmg.a.38652 |
| Popis: | Biallelic variants in FAT4 are associated with the two disorders, Van Maldergem syndrome (VMS) (n = 11) and Hennekam syndrome (HS) (n= 40). Both conditions are characterized by a typical facial gestalt and mild to moderate intellectual disability, but differ in the occurrence of neonatal hypotonia and feeding problems, hearing loss, tracheal anomalies, and osteopenia in VMS, and lymphedema in HS. VMS can be caused by autosomal recessive variants in DCHS1 as well, and HS can also be caused by autosomal recessive variants in CCBE1 and ADAMTS3. Here we report two siblings with VMS and one girl with HS, all with FAT4 variants, and provide an overview of the clinical findings in all patients reported with FAT4 variants. Our comparison of the complete phenotypes of patients with VMS and HS indicates a resemblance of several signs, but differences in several other main signs and symptoms, each of marked importance for affected individuals. |
| Databáze: | OpenAIRE |
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