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Fig. 1 NAV3 genetic variants cause intellectual disability, microcephaly, speech, and development delay in humans.a Pedigrees of seven families from diverse ethnicities with affected individuals due to genetic variants in NAV3 with multiple inheritance patterns. Filled symbols represent affected individuals, while a double horizontal line connecting parents shows a consanguineous marriage. Affected individuals of PKMR471, PK1, PE30, and F01 families are homozygous for the NAV3 variants. In contrast, family FM1 has a dominant inheritance pattern, and affected individuals of families PED4263 and MI01 have de novo variants. b Representative images of facial features of PKMR471 affected individual (IV:3) with severe ID showing dentofacial dysmorphism, microcephaly, hypertelorism, and strabismus, while affected individual of family PE30 (II:4) with moderate ID has microcephaly and skin pigmentation problems. c Bar graph representing frequency salient phenotypic features observed in the individuals that harbor genetic variants in NAV3. ID, speech, and developmental delay, and cephalic are commonly shared features. d MRI of the control and an affected individual of family PK1. Similar to control, the overall brain morphology of the affected individual was also unremarkable. However, the affected individual had mild delayed myelination (marked by red arrows) represents mild delayed myelination. Two minor developmental venous anomalies through the right side of the midbrain and cerebellum.