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DVL3 Alleles Resulting in a -1 Frameshift of the Last Exon Mediate Autosomal-Dominant Robinow Syndrome.

Abstract：

:Robinow syndrome is a rare congenital disorder characterized by mesomelic limb shortening, genital hypoplasia, and distinctive facial features. Recent reports have identified, in individuals with dominant Robinow syndrome, a specific type of variant characterized by being uniformly located in the penultimate exon of DVL1 and resulting in a -1 frameshift allele with a premature termination codon that escapes nonsense-mediated decay. Here, we studied a cohort of individuals who had been clinically diagnosed with Robinow syndrome but who had not received a molecular diagnosis from variant studies of DVL1, WNT5A, and ROR2. Because of the uniform location of frameshift variants in DVL1-mediated Robinow syndrome and the functional redundancy of DVL1, DVL2, and DVL3, we elected to pursue direct Sanger sequencing of the penultimate exon of DVL1 and its paralogs DVL2 and DVL3 to search for potential disease-associated variants. Remarkably, targeted sequencing identified five unrelated individuals harboring heterozygous, de novo frameshift variants in DVL3, including two splice acceptor mutations and three 1 bp deletions. Similar to the variants observed in DVL1-mediated Robinow syndrome, all variants in DVL3 result in a -1 frameshift, indicating that these highly specific alterations might be a common cause of dominant Robinow syndrome. Here, we review the current knowledge of these peculiar variant alleles in DVL1- and DVL3-mediated Robinow syndrome and further elucidate the phenotypic features present in subjects with DVL1 and DVL3 frameshift mutations.

journal_name

Am J Hum Genet

journal_title

American journal of human genetics

authors

White JJ,Mazzeu JF,Hoischen A,Bayram Y,Withers M,Gezdirici A,Kimonis V,Steehouwer M,Jhangiani SN,Muzny DM,Gibbs RA,Baylor-Hopkins Center for Mendelian Genomics.,van Bon BWM,Sutton VR,Lupski JR,Brunner HG,Carvalho CMB

doi

10.1016/j.ajhg.2016.01.005

subject

Has Abstract

pub_date

2016-03-03 00:00:00

pages

553-561

issue

3

eissn

0002-9297

issn

1537-6605

pii

S0002-9297(16)00009-4

journal_volume

98

pub_type

杂志文章

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