De Novo Truncating Mutations in AHDC1 in Individuals with Syndromic Expressive Language Delay, Hypotonia, and Sleep Apnea Fan Xia, Matthew N. Bainbridge,

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De Novo Truncating Mutations in AHDC1 in Individuals with Syndromic Expressive Language Delay, Hypotonia, and Sleep Apnea Fan Xia, Matthew N. Bainbridge, Tiong Yang Tan, Michael F. Wangler, Angela E. Scheuerle, Elaine H. Zackai, Margaret H. Harr, V. Reid Sutton, Roopa L. Nalam, Wenmiao Zhu, Margot Nash, Monique M. Ryan, Joy Yaplito-Lee, Jill V. Hunter, Matthew A. Deardorff, Samantha J. Penney, Arthur L. Beaudet, Sharon E. Plon, Eric A. Boerwinkle, James R. Lupski, Christine M. Eng, Donna M. Muzny, Yaping Yang, Richard A. Gibbs The American Journal of Human Genetics Volume 94, Issue 5, Pages 784-789 (May 2014) DOI: 10.1016/j.ajhg.2014.04.006 Copyright © 2014 The American Society of Human Genetics Terms and Conditions

Figure 1 Pedigrees and Mutations of Four Affected Families The American Journal of Human Genetics 2014 94, 784-789DOI: (10.1016/j.ajhg.2014.04.006) Copyright © 2014 The American Society of Human Genetics Terms and Conditions

Figure 2 Facial Features of Probands (A) Subject 1 (17 months old) with a round face, full cheeks, horizontal eyebrows, a depressed nasal bridge, anteverted nares, hypoplastic alae nasi, tented upper-lip vermillion, and microstomia. (B) Subject 2 (4 years old) with thin eyebrows, a depressed nasal bridge, a bulbous nasal tip, and protuberant ears. (C) Subject 3 (8 years old) with horizontal eyebrows, low-set ears, simple earlobes, and micrognathia. (D) Subject 4 (21 months old) with a round face, full cheeks, horizontal eyebrows, a depressed nasal bridge, anteverted nares, tented upper-lip vermillion, and microstomia. (E and F) Front (E) and side (F) views of subject 4 (9 years old) with a round face, full cheeks, horizontal eyebrows, an acute nasal angle, and fleshy pinna. The American Journal of Human Genetics 2014 94, 784-789DOI: (10.1016/j.ajhg.2014.04.006) Copyright © 2014 The American Society of Human Genetics Terms and Conditions

Figure 3 AHDC1 Genomic Organization (A) Chromosomal location of AHDC1 and the genomic region surrounding it. (B and C) Organization of AHDC1 (B) and the AT-hook DNA-binding region, conserved regions, and location of the three different truncating alterations in the disorder (C). The histogram shows evolutionary conservation (see Figure S3 for details). The American Journal of Human Genetics 2014 94, 784-789DOI: (10.1016/j.ajhg.2014.04.006) Copyright © 2014 The American Society of Human Genetics Terms and Conditions