PMC9705585_01
The first child of this mother with aplasia cutis congenita.
fped-10-1005272-g001.jpg
PMC9705585_01_fped-10-1005272-g001.jpg
F1
His left arm was significantly smaller than the right because of muscular dysplasia (Figure 1).
(A): family pedigree diagram. Shapes in blue indicate affected individual (I-1) with NM_000213.5 (ITGB4):c.1860G > A. Shapes in red indicate affected individual (I-2) with NM_000213.5 (ITGB4):c.794dupC (p.Ala266fs). Patients II-1,II-2, carried a compound heterozygous mutation with NM_000213.5 (ITGB4):c.1860G > A and NM_000213.5 (ITGB4):c.794dupC (p.Ala266fs) inherited from the parents. II-3 is a healthy boy who is unaffected with these two mutations of ITGB 4 gene. (B): The gene mutation in the ITGB4 gene (17q25 Exon 8, c.794dupC, [p.Ala266fs]) was not identified in the youngest healthy boy. (C): The gene mutation in the ITGB4 gene [17q25 Exon 15, c.1860G > A] was not identified in the youngest healthy boy. (D): The gene mutation in the ITGB4 gene (17q25 Exon 8, c.794dupC, [p.Ala266fs]) was not identified in the father. (E): The gene mutation in the ITGB4 gene [17q25 Exon 15, c.1860G > A] was not identified in the mother. (F): The heterozygous gene mutation in the ITGB4 gene [17q25 Exon 15, c.1860G > A] was identified in the father (arrows point to the site of mutation). (G): The heterozygous gene mutation in the ITGB4 gene (17q25 Exon 8, c.794dupC, [p.Ala266fs]) was identified in the mother (arrows point to the site of mutation). (H): The heterozygous gene mutations in the ITGB4 gene [17q25 Exon 15, c.1860G > A] were identified in the first two children of this mother (arrows point to the site of mutation). (I): The heterozygous gene mutations in the ITGB4 gene (17q25 Exon 8, c.794dupC, [p.Ala266fs]) were identified in the first two children of this mother(arrows point to the site of mutation).
fped-10-1005272-g002.jpg
PMC9705585_01_fped-10-1005272-g002.jpg
F2
Through whole exome sequencing, the compound heterozygote variants in the integrin, beta 4 (ITGB4) gene (17q25 exon 8, c.794dupC, [p.Ala266fs], and exon 15, c.1860G > A) were revealed in the newborn, which originated from his mother and father, respectively (Figure 2). The family genetic history is shown in Figure 2.