Abstract:
:Say-Meyer syndrome is a rare and clinically heterogeneous syndrome characterized by trigonocephaly, short stature, developmental delay and hypotelorism. Nine patients with this syndrome have been reported thus far although no causative gene has yet been identified. Here, we report two siblings with clinical phenotypes of Say-Meyer syndrome with moderate to severe intellectual disability and autism spectrum disorder. Cytogenetics and array-based comparative genomic hybridization did not reveal any chromosome abnormalities or copy number alterations. Exome sequencing of the patients revealed a novel X-linked recessive splice acceptor site variant c.145-2A > G in intron 5 of HUWE1 gene in both affected siblings. RT-PCR and sequencing revealed the use of an alternate cryptic splice acceptor site downstream, which led to deletion of six nucleotides resulting loss of two amino acids p.(Cys49-Glu50del) in HUWE1 protein. Deletion of these two amino acids, which are located in a highly conserved region, is predicted to be deleterious and quite likely to affect the function of HUWE1 protein. This is the first report of a potential candidate gene mutation for Say-Meyer syndrome, which was initially described four decades ago.
journal_name
Eur J Med Genetjournal_title
European journal of medical geneticsauthors
Muthusamy B,Nguyen TT,Bandari AK,Basheer S,Selvan LDN,Chandel D,Manoj J,Gayen S,Seshagiri S,Chandra Girimaji S,Pandey Adoi
10.1016/j.ejmg.2019.02.007subject
Has Abstractpub_date
2020-01-01 00:00:00pages
103635issue
1eissn
1769-7212issn
1878-0849pii
S1769-7212(18)30478-6journal_volume
63pub_type
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