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Case Report

Intragenic Deletions in FLNB Are Part of the Mutational Spectrum Causing Spondylocarpotarsal Synostosis Syndrome

1
Department of Women’s and Children’s Health, Dunedin School of Medicine, University of Otago, Dunedin 9016, New Zealand
2
Department of Medical Genetics, Apollo Hospitals, Chennai 600034, India
3
Department of Pathology, Dunedin School of Medicine, University of Otago, Dunedin 9016, New Zealand
*
Author to whom correspondence should be addressed.
These authors have contributed equally as first authors.
Genes 2021, 12(4), 528; https://doi.org/10.3390/genes12040528
Received: 10 March 2021 / Revised: 25 March 2021 / Accepted: 1 April 2021 / Published: 5 April 2021
(This article belongs to the Section Human Genomics and Genetic Diseases)
Spondylocarpotarsal synostosis syndrome (SCT) is characterized by vertebral fusions, a disproportionately short stature, and synostosis of carpal and tarsal bones. Pathogenic variants in FLNB, MYH3, and possibly in RFLNA, have been reported to be responsible for this condition. Here, we present two unrelated individuals presenting with features typical of SCT in which Sanger sequencing combined with whole genome sequencing identified novel, homozygous intragenic deletions in FLNB (c.1346-1372_1941+389del and c.3127-353_4223-1836del). Both deletions remove several consecutive exons and are predicted to result in a frameshift. To our knowledge, this is the first time that large structural variants in FLNB have been reported in SCT, and thus our findings add to the classes of variation that can lead to this disorder. These cases highlight the need for copy number sensitive methods to be utilized in order to be comprehensive in the search for a molecular diagnosis in individuals with a clinical diagnosis of SCT. View Full-Text
Keywords: filamin B; FLNB; spondylocarpotarsal synostosis syndrome; SCT filamin B; FLNB; spondylocarpotarsal synostosis syndrome; SCT
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MDPI and ACS Style

Fukushima, K.; Parthasarathy, P.; Wade, E.M.; Morgan, T.; Gowrishankar, K.; Markie, D.M.; Robertson, S.P. Intragenic Deletions in FLNB Are Part of the Mutational Spectrum Causing Spondylocarpotarsal Synostosis Syndrome. Genes 2021, 12, 528. https://doi.org/10.3390/genes12040528

AMA Style

Fukushima K, Parthasarathy P, Wade EM, Morgan T, Gowrishankar K, Markie DM, Robertson SP. Intragenic Deletions in FLNB Are Part of the Mutational Spectrum Causing Spondylocarpotarsal Synostosis Syndrome. Genes. 2021; 12(4):528. https://doi.org/10.3390/genes12040528

Chicago/Turabian Style

Fukushima, Kaya, Padmini Parthasarathy, Emma M. Wade, Tim Morgan, Kalpana Gowrishankar, David M. Markie, and Stephen P. Robertson. 2021. "Intragenic Deletions in FLNB Are Part of the Mutational Spectrum Causing Spondylocarpotarsal Synostosis Syndrome" Genes 12, no. 4: 528. https://doi.org/10.3390/genes12040528

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