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Van Maldergem syndrome and Hennekam syndrome: Further delineation of allelic phenotypes.
Am J Med Genet A. 2018 05; 176(5):1166-1174.AJ

Abstract

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.

Authors+Show Affiliations

Clinical Genetics Unit, Department of Obstetrics and Pediatrics, AUSL-IRCCS, Reggio Emilia, Italy. Department of Surgical, Medical, Dental and Morphological Sciences with interest in Transplant, Oncology and Regenerative Medicine, University of Modena and Reggio Emilia, Modena, Italy.Clinical Genetics Division, Faculty of Medicine, Mofid Children's Hospital, Shahid Beheshti University of Medical Sciences, Tehran, Iran.Clinical Genetics Unit, Department of Obstetrics and Pediatrics, AUSL-IRCCS, Reggio Emilia, Italy.Clinical Genetics Unit, Department of Obstetrics and Pediatrics, AUSL-IRCCS, Reggio Emilia, Italy.Clinical Genetics Unit, Department of Obstetrics and Pediatrics, AUSL-IRCCS, Reggio Emilia, Italy. Laboratory of Translational research, AUSL-IRCCS, Reggio Emilia, Italy.Department of Pediatric Immunology and Allergy, Faculty of Medicine, Mofid Children's Hospital, Shahid Beheshti University of Medical Sciences, Tehran, Iran.Department of Pediatric Immunology and Allergy, Faculty of Medicine, Mofid Children's Hospital, Shahid Beheshti University of Medical Sciences, Tehran, Iran.Clinical Genetics Unit, Department of Obstetrics and Pediatrics, AUSL-IRCCS, Reggio Emilia, Italy.Department of Otorhinolarynogology and Audiology, AUSL-IRCCS, Reggio Emilia, Italy.Department of Neonatology, AUSL-IRCCS, Reggio Emilia, Italy.DNA Diagnostics Laboratory, Academic Medical Center, University of Amsterdam, Amsterdam, the Netherlands.Clinical Genetics Unit, Department of Obstetrics and Pediatrics, AUSL-IRCCS, Reggio Emilia, Italy.Department of Pediatrics, Academic Medical Center, University of Amsterdam, Amsterdam, the Netherlands.

Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

29681106

Citation

Ivanovski, Ivan, et al. "Van Maldergem Syndrome and Hennekam Syndrome: Further Delineation of Allelic Phenotypes." American Journal of Medical Genetics. Part A, vol. 176, no. 5, 2018, pp. 1166-1174.
Ivanovski I, Akbaroghli S, Pollazzon M, et al. Van Maldergem syndrome and Hennekam syndrome: Further delineation of allelic phenotypes. Am J Med Genet A. 2018;176(5):1166-1174.
Ivanovski, I., Akbaroghli, S., Pollazzon, M., Gelmini, C., Caraffi, S. G., Mansouri, M., Chavoshzadeh, Z., Rosato, S., Polizzi, V., Gargano, G., Alders, M., Garavelli, L., & Hennekam, R. C. (2018). Van Maldergem syndrome and Hennekam syndrome: Further delineation of allelic phenotypes. American Journal of Medical Genetics. Part A, 176(5), 1166-1174. https://doi.org/10.1002/ajmg.a.38652
Ivanovski I, et al. Van Maldergem Syndrome and Hennekam Syndrome: Further Delineation of Allelic Phenotypes. Am J Med Genet A. 2018;176(5):1166-1174. PubMed PMID: 29681106.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Van Maldergem syndrome and Hennekam syndrome: Further delineation of allelic phenotypes. AU - Ivanovski,Ivan, AU - Akbaroghli,Susan, AU - Pollazzon,Marzia, AU - Gelmini,Chiara, AU - Caraffi,Stefano Giuseppe, AU - Mansouri,Mahboubeh, AU - Chavoshzadeh,Zahra, AU - Rosato,Simonetta, AU - Polizzi,Valeria, AU - Gargano,Giancarlo, AU - Alders,Marielle, AU - Garavelli,Livia, AU - Hennekam,Raoul C, PY - 2017/03/08/received PY - 2017/12/29/revised PY - 2018/02/05/accepted PY - 2018/4/23/entrez PY - 2018/4/24/pubmed PY - 2019/5/21/medline KW - ADAMTS3 KW - CCBE1 KW - DCHS1 KW - FAT4 KW - Hennekam syndrome KW - Van Maldergem syndrome KW - lymphedema SP - 1166 EP - 1174 JF - American journal of medical genetics. Part A JO - Am J Med Genet A VL - 176 IS - 5 N2 - 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. SN - 1552-4833 UR - https://www.unboundmedicine.com/medline/citation/29681106/Van_Maldergem_syndrome_and_Hennekam_syndrome:_Further_delineation_of_allelic_phenotypes_ L2 - https://doi.org/10.1002/ajmg.a.38652 DB - PRIME DP - Unbound Medicine ER -