Citations 2
High Incidence of Noonan Syndrome Features Including Short Stature and Pulmonic Stenosis in Patients carrying NF1 Missense Mutations Affecting p.Arg1809: Genotype–Phenotype Correlation
Rojnueangnit, Kitiwan , Xie, Jing , Gomes, Alicia , Sharp, Angela, Callens, Tom, Chen, Yunjia , Liu, Ying , Abbott, Mary‐Alice , Atkin, Joan, Babovic‐Vuksanovic, Dusica , Barnett, Christopher , Crenshaw, Melissa , Bartholomew, Dennis W., Basel, Lina, Bellus, Gary A. , Ben‐Shachar, Shay , Bialer, Martin G., Bick, David , Blumberg, Bruce , Cortés, Fanny, David, Karen L. , Destrèe, Anne , Rodríguez, Anna Duat , Earl, Dawn , Eswara, Marthanda, Ezquieta, Begoña, Frayling, Ian M. , Frydman, Moshe , Gardner, Kathy, Gripp, Karen W. , Hernández‐Chico, Concepción, Heyrman, Kurt, Ibrahim, Jennifer, Janssens, Sandra , Keena, Beth, Llano‐Rivas, Isabel , Leppig, Kathy, McDonald, Marie , Misra, Vinod K. , Mulbury, Jennifer, Narayanan, Vinodh , Orenstein, Naama, Galvin‐Parton, Patricia , Pedro, Hélio , Pivnick, Enikö K., Powell, Cynthia M. , Randolph, Linda M., Raskin, Salmo , Rubin, Karol, Seashore, Margretta R., Schaaf, Christian P. , Schultz, Meredith, Schorry, Elizabeth K. , Schnur, Rhonda E. , Siqveland, Elizabeth, Tkachuk, Amanda , Tonsgard, James H. , Upadhyaya, Meena , Verma, Ishwar C. , Wallace, Stephanie E , Williams, Charles A. , Zackai, Elaine H. , Zonana, Jonathan, Lázaro, Conxi , Claes, Kathleen , Korf, Bruce R. , Messiaen, Ludwine , Babovic-Vuksanovic, Dusica, Cochran, J. Nicholas , Escobar, Luis Fernando , Hernández-Chico, Concepción, Rosell, Jordi , Scheuerle, Angela E. , Martín, Yolanda , Legius, Eric , Claes, Kathleen B M , Lazaro, Conxi
Human Mutation | July 14, 2015 | Volume: 36 | Issue: 11 | Pages: 1052-1063
Speech, Prosody, and Voice Characteristics of a Mother and Daughter With a 7;13 Translocation AffectingFOXP2
Shriberg, Lawrence D., Ballard, Kirrie J. , Tomblin, J. Bruce , Odell, Katharine H., Williams, Charles A. , Duffy, Joseph R.
Journal of Speech, Language, and Hearing Research | May 3, 2007 | Volume: 49 | Issue: 3 | Pages: 500-525
PurposeThe primary goal of this case study was to describe the speech, prosody, and voice characteristics of a mother and daughter with a breakpoint in a balanced 7;13 chromosomal translocation that disrupted the transcription gene,FOXP2(cf. J. B. Tomblin et al., 2005). As with affected members of the widely cited KE family, whose communicative disorders have been associated with a point mutation in theFOXP2gene, both mother and daughter had cognitive, language, and speech challenges. A 2nd goal of the study was to illustrate in detail, the types of speech, prosody, and voice metrics that can contribute to phenotype sharpening in speech-genetics research.MethodA speech, prosody, and voice assessment protocol was administered twice within a 4-month period. Analyses were aided by comparing profiles from the present speakers (theTBfamily) with those from 2 groups of adult speakers: 7 speakers with acquired (with one exception) spastic or spastic-flaccid dysarthria and 14 speakers with acquired apraxia of speech.ResultsThe descriptive and inferential statistical findings for 13 speech, prosody, and voice variable supported the conclusion that both mother and daughter had spastic dysarthria, an apraxia of speech, and residual developmental distortion errors.ConclusionThese findings are consistent with, but also extend, the reported communicative disorders in affected members of the KE family. A companion article (K. J. Ballard, L. D. Shriberg, J. R. Duffy, & J. B. Tomblin, 2006) reports information from the orofacial and speech motor control measures administered to the same family; reports on neuropsychological and neuroimaging findings are in preparation.