Citations

ABSTRACT HLA‐A*02:1040:02 differs from HLA‐A*02:01:01:01 by a single nucleotide substitution in codon 283 (CCC>TCC) in exon 5.

ABSTRACTHLA‐C*06:402 differs from HLA‐C*06:02:01:01 by a nine‐nucleotide (TCCTGGCTG) insertion in exon 5.

ABSTRACT HLA‐DQA1*05:01:21 differs from HLA‐DQA1*05:01:01:02 by one nucleotide substitution in codon 198 (TGC > TGT) in exon 4.

Full‐length sequence of HLA‐DQB1*06:18:01 covers the 5′‐untranslated region (UTR), all introns and exons, and the 3’ UTR.

HLA‐DQA1*05:101 differs from HLA‐DQA1*05:01:01:02 by one nucleotide substitution at codon 221 (CGT>TGT) in exon 4.

HLA‐C*03:648 differs from HLA‐C*03:04:02 by one nucleotide substitution at Codon ‐23 (CGG > CTG) in exon 1.

HLA‐B*57:168 differs from HLA‐B*57:01:01:01 by one nucleotide substitution at codon 325 (TGC > TCC) in exon 7.

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.