Abstract:
BACKGROUND:X linked intellectual disability (XLID) syndromes account for a substantial number of males with ID. Much progress has been made in identifying the genetic cause in many of the syndromes described 20-40 years ago. Next generation sequencing (NGS) has contributed to the rapid discovery of XLID genes and identifying novel mutations in known XLID genes for many of these syndromes. METHODS:2 NGS approaches were employed to identify mutations in X linked genes in families with XLID disorders. 1 involved exome sequencing of genes on the X chromosome using the Agilent SureSelect Human X Chromosome Kit. The second approach was to conduct targeted NGS sequencing of 90 known XLID genes. RESULTS:We identified the same mutation, a c.12928 G>C transversion in the HUWE1 gene, which gives rise to a p.G4310R missense mutation in 2 XLID disorders: Juberg-Marsidi syndrome (JMS) and Brooks syndrome. Although the original families with these disorders were considered separate entities, they indeed overlap clinically. A third family was also found to have a novel HUWE1 mutation. CONCLUSIONS:As we identified a HUWE1 mutation in an affected male from the original family reported by Juberg and Marsidi, it is evident the syndrome does not result from a mutation in ATRX as reported in the literature. Additionally, our data indicate that JMS and Brooks syndromes are allelic having the same HUWE1 mutation.
journal_name
BMJ Openjournal_title
BMJ openauthors
Friez MJ,Brooks SS,Stevenson RE,Field M,Basehore MJ,Adès LC,Sebold C,McGee S,Saxon S,Skinner C,Craig ME,Murray L,Simensen RJ,Yap YY,Shaw MA,Gardner A,Corbett M,Kumar R,Bosshard M,van Loon B,Tarpey PS,Abidi F,Gdoi
10.1136/bmjopen-2015-009537subject
Has Abstractpub_date
2016-04-29 00:00:00pages
e009537issue
4issn
2044-6055pii
bmjopen-2015-009537journal_volume
6pub_type
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