SwePub
Sök i LIBRIS databas

  Extended search

onr:"swepub:oai:gup.ub.gu.se/65892"
 

Search: onr:"swepub:oai:gup.ub.gu.se/65892" > Mutation screening ...

  • 1 of 1
  • Previous record
  • Next record
  •    To hitlist

Mutation screening of the PTEN gene in patients with autism spectrum disorders and macrocephaly.

Buxbaum, Joseph D (author)
Cai, Guiqing (author)
Chaste, Pauline (author)
show more...
Nygren, Gudrun, 1957 (author)
Gothenburg University,Göteborgs universitet,Institutionen för neurovetenskap och fysiologi, sektionen för psykiatri och neurokemi,Institute of Neuroscience and Physiology, Department of Psychiatry and Neurochemistry
Goldsmith, Juliet (author)
Reichert, Jennifer (author)
Anckarsäter, Henrik, 1966 (author)
Gothenburg University,Göteborgs universitet,Institutionen för neurovetenskap och fysiologi, sektionen för psykiatri och neurokemi,Institute of Neuroscience and Physiology, Department of Psychiatry and Neurochemistry
Råstam, Maria, 1948 (author)
Gothenburg University,Göteborgs universitet,Institutionen för neurovetenskap och fysiologi, sektionen för psykiatri och neurokemi,Institute of Neuroscience and Physiology, Department of Psychiatry and Neurochemistry
Smith, Christopher J (author)
Silverman, Jeremy M (author)
Hollander, Eric (author)
Leboyer, Marion (author)
Gillberg, Christopher, 1950 (author)
Gothenburg University,Göteborgs universitet,Institutionen för neurovetenskap och fysiologi, sektionen för psykiatri och neurokemi,Institute of Neuroscience and Physiology, Department of Psychiatry and Neurochemistry
Verloes, Alain (author)
Betancur, Catalina (author)
show less...
 (creator_code:org_t)
2007
2007
English.
In: American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics. - : Wiley. - 1552-4841 .- 1552-485X. ; 144B:4, s. 484-491
  • Journal article (peer-reviewed)
Abstract Subject headings
Close  
  • Mutations in the PTEN gene are associated with a broad spectrum of disorders, including Cowden syndrome (CS), Bannayan-Riley-Ruvalcaba syndrome, Proteus syndrome, and Lhermitte-Duclos disease. In addition, PTEN mutations have been described in a few patients with autism spectrum disorders (ASDs) and macrocephaly. In this study, we screened the PTEN gene for mutations and deletions in 88 patients with ASDs and macrocephaly (defined as >or=2 SD above the mean). Mutation analysis was performed by direct sequencing of all exons and flanking regions, as well as the promoter region. Dosage analysis of PTEN was carried out using multiplex ligation-dependent probe amplification (MLPA). No partial or whole gene deletions were observed. We identified a de novo missense mutation (D326N) in a highly conserved amino acid in a 5-year-old boy with autism, mental retardation, language delay, extreme macrocephaly (+9.6 SD) and polydactyly of both feet. Polydactyly has previously been described in two patients with Lhermitte-Duclos disease and CS and is thus likely to be a rare sign of PTEN mutations. Our findings suggest that PTEN mutations are a relatively infrequent cause of ASDs with macrocephaly. Screening of PTEN mutations is warranted in patients with autism and pronounced macrocephaly, even in the absence of other features of PTEN-related tumor syndromes.

Subject headings

MEDICIN OCH HÄLSOVETENSKAP  -- Klinisk medicin -- Psykiatri (hsv//swe)
MEDICAL AND HEALTH SCIENCES  -- Clinical Medicine -- Psychiatry (hsv//eng)

Keyword

Abnormalities
Multiple
Genetics
Adolescent
Adult
Amino Acid Sequence
Asparagine
Genetics
Aspartic Acid
Genetics
Autistic Disorder
Complications
Genetics
Child
Child
Preschool
Craniofacial Abnormalities
Complications
Genetics
DNA Mutational Analysis
Exons
Genetics
Female
Genetic Testing
Humans
Introns
Genetics
Male
Molecular Sequence Data
Mutation
Genetics
PTEN Phosphohydrolase
Chemistry
Genetics
Syndrome

Publication and Content Type

ref (subject category)
art (subject category)

Find in a library

To the university's database

  • 1 of 1
  • Previous record
  • Next record
  •    To hitlist

Kungliga biblioteket hanterar dina personuppgifter i enlighet med EU:s dataskyddsförordning (2018), GDPR. Läs mer om hur det funkar här.
Så här hanterar KB dina uppgifter vid användning av denna tjänst.

 
pil uppåt Close

Copy and save the link in order to return to this view