Abstract
BackgroundCenani-Lenz Syndactyly (CLS) syndrome is a rare autosomal recessive disorder characterized by syndactyly and oligodactyly of fingers and toes, disorganization and fusion of metacarpals, metatarsals and phalanges, radioulnar synostosis and mesomelic shortness of the limbs, with lower limbs usually being much less affected than upper limbs.Case presentationwe report here two patients, born to consanguineous Sri Lankan parents, present with bilateral postaxial oligodactyly limited to upper limbs. While the proband has no noticeable facial dysmorphism, renal impairments or cognitive impairments, his affected sister displays a few mild facial dysmorphic features. Whole exome sequencing of the proband showed a novel deleterious homozygous mutation (c.1348A > G) in the LRP4 gene, resulting in an Ile450-to-Val (I450V) substitution.ConclusionThis recessive mutation in LRP4 confirmed the diagnosis of CLS syndrome in two patients present with isolated hand syndactyly. This is the first reported case of CLS syndrome in a family of Sri Lankan origin.
Highlights
Cenani-Lenz Syndactyly (CLS) syndrome is a rare autosomal recessive disorder characterized by syndactyly and oligodactyly of fingers and toes, disorganization and fusion of metacarpals, metatarsals and phalanges, radioulnar synostosis and mesomelic shortness of the limbs, with lower limbs usually being much less affected than upper limbs.Case presentation: we report here two patients, born to consanguineous Sri Lankan parents, present with bilateral postaxial oligodactyly limited to upper limbs
The genetic etiology of CLS has been mapped to CLS1 locus on chromosome region 11p11.2– q13.1 and is thought to result from homozygous or compound heterozygous mutations in the lipoprotein receptor-related protein 4 (LRP4) gene [6, 7]
* Correspondence: dineshani.sirisena@gmail.com 1Human Genetics Unit, Faculty of Medicine, University of Colombo, 25 Kinsey Place, Colombo 08, Sri Lanka Full list of author information is available at the end of the article the family of low-density lipoprotein (LDL) receptors and acts as an antagonist to LRP5 and LRP6 in the Wnt signaling cascade, a function that is lost when the gene is mutated
Summary
Cenani-Lenz Syndactyly (CLS) syndrome is a rare autosomal recessive disorder characterized by syndactyly and oligodactyly of fingers and toes, disorganization and fusion of metacarpals, metatarsals and phalanges, radioulnar synostosis and mesomelic shortness of the limbs, with lower limbs usually being much less affected than upper limbs.Case presentation: we report here two patients, born to consanguineous Sri Lankan parents, present with bilateral postaxial oligodactyly limited to upper limbs. Background Cenani-Lenz Syndactyly syndrome (CLS, OMIM 212780) is a rare autosomal recessive disorder characterized by syndactyly and oligodactyly of fingers and toes, disorganization and fusion of metacarpals, metatarsals and phalanges, radioulnar synostosis and mesomelic shortness of the upper limbs, with lower limbs usually being much less severely affected than upper limbs [1,2,3]. * Correspondence: dineshani.sirisena@gmail.com 1Human Genetics Unit, Faculty of Medicine, University of Colombo, 25 Kinsey Place, Colombo 08, Sri Lanka Full list of author information is available at the end of the article the family of low-density lipoprotein (LDL) receptors and acts as an antagonist to LRP5 and LRP6 in the Wnt signaling cascade, a function that is lost when the gene is mutated.
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