PMC10354630_01
Phenotypic manifestations: (A) dysmorphic features such as hypertelorism, epicanthal folds, smooth philtrum, and depressed nasal bridge. (B) Superposition of the second and fifth finger over the third and fourth finger on the left foot.
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F1
Moreover, he presented with inguinal hernia, non-descended testicles, and phimosis (Figure 1).
(A) Family pedigree of the patient: the proband is indicated with a black arrow. (B) Sanger sequencing analysis of the family. Upper panel (proband): segments of genomic DNA sequences showing the diagnostic variant SON:c.5743C>T indicated by the red arrow. Note the absence of such a variant in the middle and lower panel for the father and mother, respectively.
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PMC10354630_01_fgene-14-1183362-g002.jpg
F2
A pathogenic, de novo, heterozygous variant SON: c.5743C>T; p.Arg1915Ter was identified in the patient and confirmed by Sanger sequencing (Figure 2).