ZFIN Image: Lee et al., 2020, Fig. 1

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Figure Caption

Fig. 1 Missense variants in <italic>FAM50A</italic> cause XLID in five unrelated families.

a–e Pedigrees of the five families reported in this study are shown, with FAM50A genotype given for each available individual. Photographs of available affected males are provided for each pedigree. For family K8100, photographs are provided for the two affected males in generation IV at ages 8 and 4 years, when the family was originally published⁴; new photos from the last clinical assessment (December 2017) are shown (28 and 24 years). Ratios under females II-2, III-2, III-3, III-5, and IV-3 represent X-inactivation data. Females II-3 and II-7 were uninformative (ui) at the AR locus. Circles, females; squares, males; unfilled shapes, unaffected; black filled shapes, affected; unshaded circle with black dot, carrier female as determined by FAM50A analysis or by pedigree structure; diagonal line, deceased. Male K8100-III-6 had macrocephaly, seizure disorder, bilateral ventricular enlargement, and atrophy of the left hemisphere on a pneumoencephalogram; he was unavailable for FAM50A genotyping.

Acknowledgments

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