FIGURE

Fig. 1

ID

ZDB-FIG-221212-17

Publication

Motta et al., 2021 - SPRED2 loss-of-function causes a recessive Noonan syndrome-like phenotype

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Fig. 1

Clinical features and pedigrees of the subjects with bi-allelic inactivating SPRED2 variants

(A) Facial features of the four individuals included in this study. Note the occurrence of bitemporal narrowing, hypertelorism, down-slanting palpebral fissures, ptosis, low-set/posteriorly rotated ears with evident antitragus, wide nasal bridge, and low posterior hairline with a webbed/short neck. Typical NS chest anomalies (superior pectus carinatum and inferior pectus excavatum) are also evident. Craniofacial features resemble NS. The NS facial gestalt is particularly represented in subject 2-II-1.

(B) Pedigree charts of the three families with bi-allelic inactivating SPRED2 variants. All probands were born from first cousins. Note the high inbreeding of family 1.

Expression Data

Expression Detail

Antibody Labeling

Phenotype Data

Phenotype Detail

Acknowledgments

This image is the copyrighted work of the attributed author or publisher, and ZFIN has permission only to display this image to its users. Additional permissions should be obtained from the applicable author or publisher of the image. Full text @ Am. J. Hum. Genet.