Nablus mask-like facial syndrome: Report of an atypical case with 8q21.3-q22.1 deletion.

Autor: Mitrakos A; Laboratory of Medical Genetics, Medical School, National and Kapodistrian University of Athens, 'Ag. Sofia' Children's Hospital, Athens, Greece.; University Research Institute for the Study of Genetic and Malignant Disorders in Childhood, National and Kapodistrian University of Athens, 'Ag. Sofia' Children's Hospital, Athens, Greece., Kekou K; Laboratory of Medical Genetics, Medical School, National and Kapodistrian University of Athens, 'Ag. Sofia' Children's Hospital, Athens, Greece., Tilemis FN; Laboratory of Medical Genetics, Medical School, National and Kapodistrian University of Athens, 'Ag. Sofia' Children's Hospital, Athens, Greece.; University Research Institute for the Study of Genetic and Malignant Disorders in Childhood, National and Kapodistrian University of Athens, 'Ag. Sofia' Children's Hospital, Athens, Greece., Svingou M; Laboratory of Medical Genetics, Medical School, National and Kapodistrian University of Athens, 'Ag. Sofia' Children's Hospital, Athens, Greece., Papadimas G; 1st Department of Neurology, Medical School, National and Kapodistrian University of Athens, Eginition Hospital, Athens, Greece., Sofocleous C; Laboratory of Medical Genetics, Medical School, National and Kapodistrian University of Athens, 'Ag. Sofia' Children's Hospital, Athens, Greece., Traeger-Synodinos J; Laboratory of Medical Genetics, Medical School, National and Kapodistrian University of Athens, 'Ag. Sofia' Children's Hospital, Athens, Greece., Tzetis M; Laboratory of Medical Genetics, Medical School, National and Kapodistrian University of Athens, 'Ag. Sofia' Children's Hospital, Athens, Greece.
Jazyk: angličtina
Zdroj: American journal of medical genetics. Part A [Am J Med Genet A] 2024 Dec; Vol. 194 (12), pp. e63826. Date of Electronic Publication: 2024 Jul 22.
DOI: 10.1002/ajmg.a.63826
Abstrakt: Nablus mask-like facial syndrome (NMLFS) is a rare condition characterized by unique facial features, initially described in a 4-year-old boy from Nablus, Palestine. These features include expressionless facial appearance, tight facial skin, blepharophimosis, sparse eyebrows, and a flat nose. Genetic studies have identified a deletion of 8q22.1 as the cause of the syndrome, however while 26 patients have been reported with the deletion, only 13 displayed the characteristic facial features. Here we report on a 35-year-old male with 8q21.3-q22.1 deletion identified by whole exome sequencing and Chromosomal microarray analysis (CMA) that presents with typical and atypical features, including neurodevelopmental disorder, mild facial features, and myopathy, which has not been described in a patient with NMLFS to date. Further research will be required to understand the underlying pathogenetic mechanism of this rare genetic disorder.
(© 2024 The Author(s). American Journal of Medical Genetics Part A published by Wiley Periodicals LLC.)
Databáze: MEDLINE
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