Abstrakt
Marfan syndrome is a pleiotropic multisystemic disorder of connective tissues with autosomal dominant inheritance mainly due to mutations in gene FBN1 encoding fibrilin-1. The most serious clinical manifestations are cardiovascular defects which account for the most common cause of death of patients.
Other symptoms include tall stature with disproportionately long limbs, arachnodactyly, hypermobility of joints, skeletal and eye anomalies. We describe a 4-year-old male patient with Marfan syndrome.
De novo deletion of FBN1 gene was identified by MLPA analysis. As there was hypotonia and psychomotor delay we performed additional array-CGH analysis for to determine the exact size of the aberration.
Array-CGH analysis revealed a 1.6 - 1.8 Mb microdeletion in chromosome 2q13 affecting 16 - 18 genes. The same microdeletion was detected in the phenotypically normal father.
Deletions in 2q13 have an incomplete penetrance and are associated with developmental delay or intellectual disability, dysmorphic features, congenital heart defects, hypotonia and others. This microdeletion is probably the cause of hypotonia and psychomotor delay in the patient.
Supported by MZ 0064203 and NF-CZ11-PDP-3-003-2014