Novel variants identified in CKAP2L in two siblings with Filippi syndrome

Pathogenic variants in have previously been reported in Filippi syndrome (FS), a rare autosomal recessive, craniodigital syndrome characterized by microcephaly, syndactyly, short stature, intellectual disability, and dysmorphic facial features. To date, fewer than 10 patients with pathogenic variant...

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Bibliographic Details
Published in:Cold Spring Harbor molecular case studies 2022-02, Vol.8 (2), p.mcs.a006130
Main Authors: Patrick, Ryan J, Weimer, Jill, Davis-Keppen, Laura, Landsverk, Megan L
Format: Article
Language:English
Subjects:
Cytoskeletal Proteins - genetics
Facies
Growth Disorders
Humans
Intellectual disabilities
Intellectual Disability - genetics
Intellectual Disability - pathology
Male
Methionine
Microcephaly
Microcephaly - genetics
Nervous System Malformations - genetics
Pedigree
Rapid Communication
Siblings
Syndactyly
Syndactyly - genetics
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Summary:Pathogenic variants in have previously been reported in Filippi syndrome (FS), a rare autosomal recessive, craniodigital syndrome characterized by microcephaly, syndactyly, short stature, intellectual disability, and dysmorphic facial features. To date, fewer than 10 patients with pathogenic variants in associated with FS have been reported. All of the previously reported probands have presumed loss-of-function variants (frameshift, canonical splice site, starting methionine), and all but one have been homozygous for a pathogenic variant. Here we describe two brothers who presented with microcephaly, micrognathia, syndactyly, dysmorphic features, and intellectual disability. Whole-exome sequencing of the family identified a missense variant, c.2066G > A;p.(Arg689His), in with a frameshift variant, c.1169_1173del;p.(Ile390LysfsTer4), in To our knowledge, these are the first patients with FS to be reported with a missense variant in and only the second family to be reported with two variants in .
ISSN:2373-2865
2373-2873
DOI:10.1101/mcs.a006130