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![Clinical and genetic features. (A)
Pedigree chart of the family of the proband with
Mullegama-Klein-Martinez syndrome and familial polycystic kidney
disease. The pedigree depicts the segregation of both the STAG2
(shown in black) and PKD1 (shown in blue) variants within the
family. (B) Facial appearance of the proband (Ⅲ-1) at the age of 4
months, showing microcephaly (head circumference of 39 cm, <-1
SD), narrow forehead, saddle nose, large ears, micrognathia and
microstomia. (C) The Sanger sequencing chromatograms illustrate the
presence of a novel heterozygous STAG2 variant
[NM_001042750.2:c.1775_1777del, p.(Pro592del)] and a novel
heterozygous frameshift PKD1 variant [NM_001009944.3:
c.8985delC, p.(Ser2996fs*78)] in the proband. (D) The spectrum of
STAG2 pathogenic variants. The red variant is the novel
variant identified in the present study. STAG, stromal antigen;
SCD, stromalin conservative domain; HEAT_SCC3-SA, cohesin subunit
SCC3/SA, HEAT-repeats domain.](/article_images/etm/31/3/etm-31-03-13057-g00.jpg)
