SLC9A6 Mutations Cause X-Linked Mental Retardation, Microcephaly, Epilepsy, and Ataxia, a Phenotype Mimicking Angelman Syndrome Gregor D. Gilfillan,

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SLC9A6 Mutations Cause X-Linked Mental Retardation, Microcephaly, Epilepsy, and Ataxia, a Phenotype Mimicking Angelman Syndrome Gregor D. Gilfillan, Kaja K. Selmer, Ingrid Roxrud, Raffaella Smith, Mårten Kyllerman, Kristin Eiklid, Mette Kroken, Morten Mattingsdal, Thore Egeland, Harald Stenmark, Hans Sjøholm, Andres Server, Lena Samuelsson, Arnold Christianson, Patrick Tarpey, Annabel Whibley, Michael R. Stratton, P. Andrew Futreal, Jon Teague, Sarah Edkins, Jozef Gecz, Gillian Turner, F. Lucy Raymond, Charles Schwartz, Roger E. Stevenson, Dag E. Undlien, Petter Strømme The American Journal of Human Genetics Volume 82, Issue 4, Pages 1003-1010 (April 2008) DOI: 10.1016/j.ajhg.2008.01.013 Copyright © 2008 The American Society of Human Genetics Terms and Conditions

Figure 1 Inheritance of Phenotypes Mimicking Angelman Syndrome Attributed to SLC9A6 Mutations (A) Pedigree of a Norwegian family linked to Xq24-q27.3. Affected males are indicated by filled squares, carrier females by circles containing a dot. The pictures show individual III-5 (left), aged two years, and individual III-4 (right), aged eight years, demonstrating tendency towards flexed arms, open mouth with drooling, and a happy disposition. (B) Pedigree of the Swedish family. Individual III-1, aged six years, demonstrates a happy disposition and an open mouth with drooling. (C) Pedigree of the UK family with picture of individual II-5, aged three years, demonstrating an open mouth with drooling and II-1, aged 20 years, with severe kyphoscoliosis. In (B) and (C), only individuals marked with an asterisk were tested as part of this investigation. The American Journal of Human Genetics 2008 82, 1003-1010DOI: (10.1016/j.ajhg.2008.01.013) Copyright © 2008 The American Society of Human Genetics Terms and Conditions

Figure 2 Mutations Found in SLC9A6 Sequence traces of wild-type (upper) and patient (lower) DNA, with corresponding amino acid single-letter codes. Sequences shown are from affected male patients from (A) Norwegian (Figure 1A), (B) Swedish (Figure 1B), (C) South African (Christianson et al, 199921), and (D) UK (Figure 1C) families. Intronic DNA sequences are shown in lower case. Deleted or altered bases are underlined. The American Journal of Human Genetics 2008 82, 1003-1010DOI: (10.1016/j.ajhg.2008.01.013) Copyright © 2008 The American Society of Human Genetics Terms and Conditions

Figure 3 Neuroradiological Examinations (A and B) Magnetic Resonance Imaging (MRI). Saggital T1-weighted MRI examination of the brain in Norwegian patient III-2 (see Figure 1A) at age four years (0.5 Tesla) (A) and seven years (1.5 Tesla) (B), showing progressive cerebellar atrophy. (C and D) MR spectra (TE = 30 ms), also from Norwegian patient III-2 at seven years of age. Spectral peaks for inositol (Ins), choline (Cho), creatine (Cr), and N-acetylaspartate (NAA) are indicated. Increased amounts of the glutamate-glutamine complex (arrow) are suggested by the increased glutamate-glutamine:Cr ratio in the basal ganglia (C), whilst normal metabolite levels were seen in deep cerebral white matter (D). The illustrations to the right in the panels indicate the position of the voxels of interest (dimensions 2 × 2 × 2 cm). The American Journal of Human Genetics 2008 82, 1003-1010DOI: (10.1016/j.ajhg.2008.01.013) Copyright © 2008 The American Society of Human Genetics Terms and Conditions