A de novo balanced translocation breakpoint truncating the autism susceptibility candidate 2 (<i>AUTS2</i>) gene in a patient with autism

Huang, Xin; Zou, Ying; Maher, Thomas A.; Newton, Stephanie; Milunsky, Jeff M.

doi:10.1002/ajmg.a.33497

Cited by 48 publications

(43 citation statements)

References 6 publications

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“…Kalscheuer et al 32 described translocations involving AUTS2 in three unrelated individuals with mild to moderate ID. Huang et al 33 reported autism in a patient with an apparently balanced t(6;7)(q14;q11.2). An inversion disrupting both the AUTS2 and contactin-associated protein-like 2 (CNTNAP2) genes was reported in a child with ASD and ID.…”

Section: Resultsmentioning

confidence: 99%

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Detection of copy-number variation in AUTS2 gene by targeted exonic array CGH in patients with developmental delay and autistic spectrum disorders

et al. 2012

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Section: Resultsmentioning

confidence: 99%

“…The oligonucleotide coverage in the 180k exon-targeted array clearly shows more oligos per exon as compared to the 105k genome array. The previously published reports on either translocation breakpoints (Huang et al, 33 Sultana et al, 30 Kalscheuer et al 32 ) or inversion breakpoints (Talkowski et al, 34 Bakkaloglu et al 31 …”

Section: Discussionmentioning

confidence: 99%

Detection of copy-number variation in AUTS2 gene by targeted exonic array CGH in patients with developmental delay and autistic spectrum disorders

et al. 2012

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“…(These items were selected because they occurred in at least two unrelated individuals with AUTS2 syndrome.) 1, [3][4][5][6][7][8][9][10][11] frameshift in the full-length AUTS2 transcript, likely to cause haploinsufficiency. Both men have intellectual disability, an autism spectrum disorder, feeding difficulties after birth, mild distal joint contractures and mild dysmorphic features.…”

Section: Discussionmentioning

confidence: 99%

Two male adults with pathogenic AUTS2 variants, including a two-base pair deletion, further delineate the AUTS2 syndrome

Beunders

Munnik

et al. 2014

Eur J Hum Genet

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AUTS2 syndrome is characterized by low birth weight, feeding difficulties, intellectual disability, microcephaly and mild dysmorphic features. All affected individuals thus far were caused by chromosomal rearrangements, variants at the base pair level disrupting AUTS2 have not yet been described. Here we present the full clinical description of two affected men with intragenic AUTS2 variants (one two-base pair deletion in exon 7 and one deletion of exon 6). Both variants are de novo and are predicted to cause a frameshift of the full-length transcript but are unlikely to affect the shorter 3 0 transcript starting in exon 9. The similarities between the phenotypes of both men are striking and further support that AUTS2 syndrome is a single gene disorder. ( European Journal of Human Genetics INTRODUCTIONDisruption of AUTS2 by translocations, inversions or deletions causes a syndromic form of intellectual disability. 1 Forty-four pathogenic disruptions of AUTS2 have been described: 6 translocations and 2 inversions with one breakpoint in AUTS2 and 36 deletions (with a size of 50 kb to 4.5 Mb) containing at least one exon and a maximum of two downstream genes. In most cases parental DNA was available.De novo occurrence could be confirmed in the majority of the patients, but in five families the deletions were inherited from an affected parent (twice), an unaffected father (once) or a parent of whom no clinical data were available (twice). 1-11 A detailed study of 17 affected individuals with a disruption of AUTS2 revealed a distinct AUTS2 syndrome characterized by intellectual disability, microcephaly, mild short stature, feeding problems, hypertonia or hypotonia and facial features, including ptosis, highly arched eyebrows, narrow mouth and micro/retrognathia. 1 The AUTS2 syndrome severity score, expressed as the sum of all features seen more than once in unrelated affected individuals, is a measure of the severity and specificity of the phenotype. The median AUTS2 syndrome severity score of individuals with a genomic rearrangement/ deletion involving the 3 0 region of AUTS2 was significantly higher than that of individuals with 5 0 deletions. The 3 0 end of the gene harbors an alternative transcript that is (like the full-length transcript) expressed in human brain and starts in exon 9. The short transcript is able to rescue the phenotype of AUTS2 zebrafish morphants. These two observations indicate that the 3 0 region of AUTS2 contains important functional domains. 1 Here we report a deletion of two nucleotides, the first pathogenic variant at the base pair level, in a young adult with a syndromic form

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“…Determining which genes these transcriptional regulators control may give insight into the biological pathways involved in disease and the mechanisms by which they occur. The gene AUTS2 was originally identified through the mapping of a translocation breakpoint on chromosome 7 in a pair of autistic monozygotic twins (Sultana et al, 2002), and subsequently identified in a number of studies of other autism patients with cytogenetic aberrations (Bakkaloglu et al, 2008;Huang et al, 2010). AUTS2 has more recently been identified at the breakpoint for de novo translocations in three unrelated ID individuals (Kalscheuer et al, 2007), as well as at breakpoints of CNVs in individuals with ADHD (Elia et al, 2010) and epilepsy (Mefford et al.…”

Section: Transcriptional Controlmentioning

confidence: 99%

Common Genetic Etiologies and Biological Pathways Shared Between Autism Spectrum Disorders and Intellectual Disabilities

Kaufman¹,

Noor²,

Ayub³

et al. 2011

Autism Spectrum Disorders: The Role of Genetics in Diagnosis and Treatment

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A de novo balanced translocation breakpoint truncating the autism susceptibility candidate 2 (AUTS2) gene in a patient with autism

Cited by 48 publications

References 6 publications

Detection of copy-number variation in AUTS2 gene by targeted exonic array CGH in patients with developmental delay and autistic spectrum disorders

Detection of copy-number variation in AUTS2 gene by targeted exonic array CGH in patients with developmental delay and autistic spectrum disorders

Two male adults with pathogenic AUTS2 variants, including a two-base pair deletion, further delineate the AUTS2 syndrome

Common Genetic Etiologies and Biological Pathways Shared Between Autism Spectrum Disorders and Intellectual Disabilities

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