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. 2017 Jun 8;101(1):123–129. doi: 10.1016/j.ajhg.2017.05.011

Figure 1.

Figure 1

Genetic Analysis and Description of the Three MMIHS Subjects Included in This Study

(A) Pedigrees of the two consanguineous families analyzed by Sanger sequencing show the presence of homozygous variants in MYLK. Subject 1 (II-2) and subject 2 (II-3) carry a 7 bp duplication in exon 23 (c.3838_3844dupGAAAGCG [p.Glu1282_Glyfs∗51]), whereas their unaffected sister (II-4) shows no mutant allele. Subject 3 (II-5) has a putative splice-site variant affecting exon 23 (c.3985+5C>A). Both variants are present in a heterozygous state in the parents.

(B) Prenatal ultrasonography of subject 1 (II-2) at 13 weeks of gestation revealed a distended bladder and generalized subcutaneous edema.

(C) Prenatal ultrasonography of subject 2 (II-3) at 24 weeks revealed a distended bladder, hydronephrosis, and severe oligohydramnios.

(D) Barium enema performed in subject 2 (II-3) suggested intestinal obstruction and malrotation.

(E) Neonatal ultrasonography of subject 3 (II-5) revealed bladder distension and bilateral hydronephrosis.

Abbreviations are as follows: UB, urinary bladder; K, kidney; RK, right kidney; and LK, left kidney.