ABSTRACT
We report the clinical and cytogenetic findings on a male child with developmental language disorder, no physical abnormalities, and a balanced t(10;15)(q24.1;q21.1) translocation. As the child's parents are unavailable for investigations, it is unclear whether the translocation is inherited or de novo. Fluorescence in situ hybridization (FISH) analyses were carried out using specific RP11-BAC clones mapping near 15q21.1 and 10q24.1 to refine the location of the breakpoints. The breakpoint on 15q21.1 interrupts the SEMA6D gene and the breakpoint on 10q24.1 is located between the ENTPD1 and CCNJ genes. The SEMA6D gene was further investigated in samples of individuals with developmental language disorders and controls; this investigation offered further evidence of the involvement of SEMA6D with developmental language disorders.
Subject(s)
Language Development Disorders/genetics , Translocation, Genetic , Child , Chromosome Breakpoints , Chromosomes, Human, Pair 10 , Chromosomes, Human, Pair 15 , Humans , In Situ Hybridization, Fluorescence , Male , Semaphorins/geneticsABSTRACT
Potocki-Lupski syndrome (PTLS; OMIM 610883) is a genomic syndrome that arises as a result of a duplication of 17p11.2. Although numerous cases of individuals with PTLS have been presented in the literature, its behavioral characterization is still ambiguous. We present a male child with a de novo dup(17)(p11.2p11.2) and he does not possess any autistic features, but is characterized by severe speech and language impairment. In the context of the analyses of this patient and other cases of PTLS, we argue that the central feature of the syndrome appears to be related to diminished speech and language capacity, rather than the specific social deficits central to autism.