Figure 2.

Pedigree diagram of the family

A. The proband (II-1, Son-case) showed clinical manifestations, but not his consanguineous parents (I-1, Father; I-2, Mother) and younger brother (II-3, Son-control). II-2 and II-4 were subjected to active abortion. B. Diagonal arrow indicates the SBF2 c. 4571del; the proband carried c. 4571delG, a 1-bp deletion in exon 34 of SBF2 in homozygous form; his parents and younger brother carried this mutation in the heterozygous form. The GenBank accession number for the reference sequence is NG_008074.1. C. Schematic representation of wild type and the potential mutated SBF2 protein. The c. 4571delG deletion causes amino acid change at codon 1524 (Gly1524Glu), leads to the frame shift onward and thus creates a stop codon at codon 1566 (p.Gly1524Glufs∗42). This premature termination may result in a truncated SBF2 protein product comprising 1565 amino acid residues or lack of expression due to the nonsense-mediated decay. The gray box represents the 42 C-terminal missense-mutated residues including the Gly1524Glu mutation. DENN, differentially expressed in neoplastic versus normal cells; uDENN, upstream DENN; dDENN, downstream DENN. Myotubularin indicates the myotubularin-like phosphatase domain. PH, pleckstrin homology domain.