Neurological Phenotype in Waardenburg Syndrome Type 4 Correlates with Novel SOX10 Truncating Mutations and Expression in Developing Brain Renaud L. Touraine,

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Neurological Phenotype in Waardenburg Syndrome Type 4 Correlates with Novel SOX10 Truncating Mutations and Expression in Developing Brain Renaud L. Touraine, Tania Attié-Bitach, Eric Manceau, Eckhard Korsch, Pierre Sarda, Véronique Pingault, Féréchté Encha-Razavi, Anna Pelet, Joelle Augé, Annie Nivelon-Chevallier, Alexander Mathias Holschneider, Marc Munnes, Walter Doerfler, Michel Goossens, Arnold Munnich, Michel Vekemans, Stanislas Lyonnet The American Journal of Human Genetics Volume 66, Issue 5, Pages 1496-1503 (May 2000) DOI: 10.1086/302895 Copyright © 2000 The American Society of Human Genetics Terms and Conditions

Figure 1 Y313X and S251X SOX10 mutations. A, DNA sequence of SOX10 exon 5 showing the normal sequence (N) and the Y313X heterozygous mutation (arrow) in the proband (family 1). B, DNA sequence of SOX10 exon 5 showing the normal sequence (N) and the S251X heterozygous mutation in the proband (family 3). C, Family 1 with pedigree and PCR-amplified exon 5 of the SOX10 gene, digested with DdeI: normal allele (+) = 201 + 66 bp (+32-bp fragment nonvisible), mutated allele (m) = 256 bp (+32-bp fragment nonvisible). The American Journal of Human Genetics 2000 66, 1496-1503DOI: (10.1086/302895) Copyright © 2000 The American Society of Human Genetics Terms and Conditions

Figure 2 SOX10 expression in transverse sections of a Carnegie 13 human embryo, under dark-field illumination. A, Cranial nerve ganglia (V, VII/VIII, and IX/X) and otic vesicle (OV). Also shown, neural tube (NT). B, Dorsal root ganglia (DRG). SOX10 expression in transverse sections through a Carnegie 16 human embryo under dark-field illumination. Also shown, heart (H) C, Cranial nerve ganglia V and ectomesenchyme (EM). Also shown, nasal pits (NP), optic vesicle (Opv), rhombencephalon (Rh), and Rathke pouch (RP). D, Dorsal root (DR), dorsal root ganglia (DRG), spinal nerve (SN), and ventral root (VR) merging from the anterior horn (AH). Serial parasagittal sections through a Carnegie 17 human embryo, either hematoxylin and eosin–stained (E) or hybridized with SOX10 riboprobe and examined under dark-field illumination (F), which shows SOX10 expression in the cranial ganglia (V, VII/VIII, and IX/X), olfactory bulb (OlfB), cranial ectomesenchyme (i.e., Meckel cartilage [MC] and nasal cartilage [NC]), nerves in intercostal spaces, nerve fibers (N) in maxilla (Max), mandible (Man), and tongue (To), internal ear (semicircular canals [SCC], utricle, and saccula [U/S]), and the ultimobranchial body (UBB). The American Journal of Human Genetics 2000 66, 1496-1503DOI: (10.1086/302895) Copyright © 2000 The American Society of Human Genetics Terms and Conditions

Figure 3 SOX10 expression in fetal brain. Transverse sections of the brain of a 20-wk fetus. A, F, H, hematoxylin and eosin staining. B, C, D, E, G, I, SOX10 in situ hybridization under dark-field illumination. C is a higher-magnification view of B (boxed area). A diffuse SOX10 expression is seen in many areas of the brain, located in some strongly positive cells scattered in the white matter, respecting the pyramidal tracts (A, B). Signal is more intense in pons (A–C); internal capsule (D); peduncle, especially in tectum (E); hippocampal formation (F, G); and cerebellum (H, I). J, Adjacent slide to I, hybridized with the sense (control) SOX10 probe. Cranial nerves are strongly labeled as shown for the nerve of cranial nerve ganglia VIII N (B, C). Py = pyramidal tracts. The American Journal of Human Genetics 2000 66, 1496-1503DOI: (10.1086/302895) Copyright © 2000 The American Society of Human Genetics Terms and Conditions

Figure 4 Representation of SOX10 protein with the transactivation domain and the HMG box, which shows the position of the seven previously reported mutations, the mutation responsible for the murine Dom mutant, and the two novel mutations. The mutations associated with an additional neurological phenotype are provided (upper part). The American Journal of Human Genetics 2000 66, 1496-1503DOI: (10.1086/302895) Copyright © 2000 The American Society of Human Genetics Terms and Conditions