Deletions in chromosome 6p22.3-p24.3, including ATXN1, are associated with developmental delay and autism spectrum disorders

Interstitial deletions of the short arm of chromosome 6 are rare and have been associated with developmental delay, hypotonia, congenital anomalies, and dysmorphic features. We used array comparative genomic hybridization in a South Carolina Autism Project (SCAP) cohort of 97 subjects with autism spectrum disorders (ASDs) and identified an ~ 5.4 Mb deletion on chromosome 6p22.3-p23 in a 15-year-old patient with intellectual disability and ASDs. Subsequent database queries revealed five additional individuals with overlapping submicroscopic deletions and presenting with developmental and speech delay, seizures, behavioral abnormalities, heart defects, and dysmorphic features. The deletion found in the SCAP patient harbors ATXN1, DTNBP1, JARID2, and NHLRC1 that we propose may be responsible for ASDs and developmental delay

Whole-exome analysis of foetal autopsy tissue reveals a frameshift mutation in OBSL1, consistent with a diagnosis of 3-M Syndrome

Abstract Background We report a consanguineous couple that has experienced three consecutive pregnancy losses following the foetal ultrasound finding of short limbs. Post-termination examination revealed no skeletal dysplasia, but some subtle proximal limb shortening in two foetuses, and a spectrum of mildly dysmorphic features. Karyotype was normal in all three foetuses (46, XX) and comparative genomic hybridization microarray analysis detected no pathogenic copy number variants. Results Whole-exome sequencing and genome-wide homozygosity mapping revealed a previously reported frameshift mutation in the OBSL1 gene (c.1273insA p.T425nfsX40), consistent with a diagnosis of 3-M Syndrome 2 (OMIM #612921), which had not been anticipated from the clinical findings. Conclusions Our study provides novel insight into the early clinical manifestations of this form of 3-M syndrome, and demonstrates the utility of whole exome sequencing as a tool for prenatal diagnosis in particular when there is a family history suggestive of a recurrent set of clinical symptoms

Deletions in chromosome 6p22.3-p24.3, including <it>ATXN1</it>, are associated with developmental delay and autism spectrum disorders

Abstract Interstitial deletions of the short arm of chromosome 6 are rare and have been associated with developmental delay, hypotonia, congenital anomalies, and dysmorphic features. We used array comparative genomic hybridization in a South Carolina Autism Project (SCAP) cohort of 97 subjects with autism spectrum disorders (ASDs) and identified an ~ 5.4 Mb deletion on chromosome 6p22.3-p23 in a 15-year-old patient with intellectual disability and ASDs. Subsequent database queries revealed five additional individuals with overlapping submicroscopic deletions and presenting with developmental and speech delay, seizures, behavioral abnormalities, heart defects, and dysmorphic features. The deletion found in the SCAP patient harbors ATXN1, DTNBP1, JARID2, and NHLRC1 that we propose may be responsible for ASDs and developmental delay.</p

Identity is an Infinite Now: Being Instead of Becoming Gallina

Archaeological research on the Gallina (AD 1100–1300) inhabitants of the region west of the Rio Chama and centered on the Llaves valley has focused on constructing a culture history and examining functional characteristics of artifacts and architecture. Limited research has attempted to understand who the residents of the Gallina heartland were. In this article, using new findings and historical contexts, we argue that the Gallina people had a complicated identity forged around resistance and a deep connection to their past. To better understand them we need to move past previous binary categories used to describe them and perceive them not as isolated or connected, aggressors or victims, traditionalists or innovators, but as an intersectional mix of these axes of identity.La investigación arqueológica sobre los habitantes Gallina (1100–1300 d. C.) de la región oeste del Río Chama, focalizada en el valle de Llaves, se orientó en la construcción de una historia cultural y el análisis de las características funcionales de los artefactos y la arquitectura. De hecho, han sido escasas las investigaciones que han intentado entender quiénes eran los residentes del Gallina. En este artículo, utilizando nuevos hallazgos y contextos históricos, argumentamos que los grupos Gallina tuvieron una identidad compleja, forjada en torno a la resistencia y a una profunda conexión con su historia. Asimismo, para entenderlas necesitamos movernos más allá de las tradicionales categorías binarias usadas para interpretarlos y percibirlos como aislados o conectados, violentos o víctimas, tradicionalistas o inventores, y en cambio, como una mezcla que abarca todos estos ejes de identidad.Archaeology of the America