Abstract
1.5 Mutational spectrum Biallelic mutations in the RECQL4 gene are associated with Rothmund–Thomson (RTS) and two additional recessive disorders: RAPADILINO (RAdial hypoplasia, PAtellae hypoplasia and cleft or arched PAlate, DIarrhea and DIslocated joints, LIttle size and LImb malformation, slender NOse and NOrmal intelligence) and Baller– Gerold syndrome (BGS). More than 60 disease-causing mutations have been reported, of which at least 40 have been detected in RTS patients.1,2 The types of observed mutations are as follows, in order of decreasing prevalence: nonsense or frameshift mutations; splicing alterations, including substitutions at canonical splice junctions or at splice-site consensus sequences and subtle intronic deletions that reduce intron size below the threshold (o80 bp) required for correct splicing;3,4 and missense mutations. There are a few recurrent mutations, among which the most common, exon 9 c.1573delT (p.Cys525AlafsX33), has been detected in patients with all three RECQL4-associated diseases. This truncating mutation accounts for approximately one-third of RTS mutations and has only been found in compound heterozygous patients from multiple ethnic backgrounds. A deletion of the entire gene has never been identified.
Published Version (
Free)
Talk to us
Join us for a 30 min session where you can share your feedback and ask us any queries you have
Schedule a callDisclaimer: All third-party content on this website/platform is and will remain the property of their respective owners and is provided on "as is" basis without any warranties, express or implied. Use of third-party content does not indicate any affiliation, sponsorship with or endorsement by them. Any references to third-party content is to identify the corresponding services and shall be considered fair use under The CopyrightLaw.
