| An autosomal recessive syndrome of severe cognitive impairment, dysmorphic facies and skeletal abnormalities maps to the long arm of chromosome 17. | |
| | |
MedLine Citation:
|
PMID: 20950399 Owner: NLM Status: In-Data-Review |
Abstract/OtherAbstract:
|
Al-Owain M, Alazami AM, Alkuraya FS. An autosomal recessive syndrome of severe cognitive impairment, dysmorphic facies and skeletal abnormalities maps to the long arm of chromosome 17. Cognitive impairment (CI) is one of the most challenging referrals to the clinical genetics service. The different algorithms proposed to assist in the molecular diagnosis of CI rest largely on the distinction between syndromic and non-syndromic forms. We have identified what appears to be a novel syndromic form of CI, the variable phenotype of which comprises severe CI, hirsutism, dysmorphic facies and skeletal abnormalities, and have mapped it to a single locus on chromosome 17q21.31-17q22 spanning 12.2 Mb. Two candidate genes, HOXB6 and PPP1R9B were sequenced but no pathogenic alterations were identified. This report adds to the growing list of autosomal recessive syndromic CI conditions and defines a linkage interval harboring a gene which probably plays a vital role in brain development. |
| | |
Authors:
|
M Al-Owain; A M Alazami; F S Alkuraya |
Related Documents
:
|
8641859 - Laurence-moon-bardet-biedl syndrome in combination with cotard's syndrome. case report. 2793999 - Time and natural history: the changing face. 3740099 - Sc phocomelia syndrome, premature centromere separation, and congenital cranial nerve p... 17389129 - Neurodevelopmental and behavioral issues in williams syndrome. 9098489 - Probable opitz trigonocephaly c syndrome with medulloblastoma. 7588969 - Floating-harbor syndrome: description of a further patient, review of the literature, a... 21873149 - Hellp syndrome: nine cases treated at josephine-bongo maternity hospital. 7978059 - Disseminated histoplasmosis: a cause of infection-associated hemophagocytic syndrome. 7993249 - Shoulder impingement syndrome: diagnostic accuracy of magnetic resonance imaging and ra... |
Publication Detail:
|
Type: Journal Article Date: 2010-10-18 |
Journal Detail:
|
Title: Clinical genetics Volume: 80 ISSN: 1399-0004 ISO Abbreviation: Clin. Genet. Publication Date: 2011 Nov |
Date Detail:
|
Created Date: 2012-03-16 Completed Date: - Revised Date: - |
Medline Journal Info:
|
Nlm Unique ID: 0253664 Medline TA: Clin Genet Country: Denmark |
Other Details:
|
Languages: eng Pagination: 489-92 Citation Subset: IM |
Copyright Information:
|
© 2010 John Wiley & Sons A/S. |
Affiliation:
|
Department of Medical Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia Department of Anatomy and Cell Biology, College of Medicine, Alfaisal University, Riyadh, Saudi Arabia Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia Department of Pediatrics, King Khalid University Hospital and College of Medicine, King Saud University, Riyadh, Saudi Arabia. |
Export Citation:
|
APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
|
|
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
Previous Document: Aberrant PKD2 splicing due to a presumed novel missense mutation in autosomal-dominant polycystic ki...
Next Document: Significance levels in genome-wide interaction analysis (GWIA).