umu.sePublications
Change search
CiteExportLink to record
Permanent link

Direct link
Cite
Citation style
  • apa
  • ieee
  • modern-language-association-8th-edition
  • vancouver
  • Other style
More styles
Language
  • de-DE
  • en-GB
  • en-US
  • fi-FI
  • nn-NO
  • nn-NB
  • sv-SE
  • Other locale
More languages
Output format
  • html
  • text
  • asciidoc
  • rtf
Genomic screening in rare disorders: new mutations and phenotypes, highlighting ALG14 as a novel cause of severe intellectual disability
Show others and affiliations
2018 (English)In: Clinical Genetics, ISSN 0009-9163, E-ISSN 1399-0004, Vol. 94, no 6, p. 528-537Article in journal (Refereed) Published
Abstract [en]

We have investigated 20 consanguineous families with multiple children affected by rare disorders. Detailed clinical examinations, exome sequencing of affected as well as unaffected family members and further validation of likely pathogenic variants were performed. In 16/20 families, we identified pathogenic variants in autosomal recessive disease genes (ALMS1, PIGT, FLVCR2, TFG, CYP7B1, ALG14, EXOSC3, MEGF10, ASAH1, WDR62, ASPM, PNPO, ERCC5, KIAA1109, RIPK4, MAN1B1). A number of these genes have only rarely been reported previously and our findings thus confirm them as disease genes, further delineate the associated phenotypes and expand the mutation spectrum with reports of novel variants. We highlight the findings in two affected siblings with splice altering variants in ALG14 and propose a new clinical entity, which includes severe intellectual disability, epilepsy, behavioral problems and mild dysmorphic features, caused by biallelic variants in ALG14.

Place, publisher, year, edition, pages
John Wiley & Sons, 2018. Vol. 94, no 6, p. 528-537
Keywords [en]
ALG14, exome sequencing, genome screening, intellectual disability, KIAA1109, rare disorders
National Category
Medical Genetics
Identifiers
URN: urn:nbn:se:umu:diva-154933DOI: 10.1111/cge.13448ISI: 000450028600005PubMedID: 30221345OAI: oai:DiVA.org:umu-154933DiVA, id: diva2:1275714
Funder
Knut and Alice Wallenberg FoundationStockholm County CouncilAvailable from: 2019-01-07 Created: 2019-01-07 Last updated: 2019-01-07Bibliographically approved

Open Access in DiVA

No full text in DiVA

Other links

Publisher's full textPubMed

Authority records BETA

Burstedt, Magnus

Search in DiVA

By author/editor
Taylan, FulyaNilsson, DanielBurstedt, Magnus
By organisation
Medical and Clinical Genetics
In the same journal
Clinical Genetics
Medical Genetics

Search outside of DiVA

GoogleGoogle Scholar

doi
pubmed
urn-nbn

Altmetric score

doi
pubmed
urn-nbn
Total: 45 hits
CiteExportLink to record
Permanent link

Direct link
Cite
Citation style
  • apa
  • ieee
  • modern-language-association-8th-edition
  • vancouver
  • Other style
More styles
Language
  • de-DE
  • en-GB
  • en-US
  • fi-FI
  • nn-NO
  • nn-NB
  • sv-SE
  • Other locale
More languages
Output format
  • html
  • text
  • asciidoc
  • rtf