Evidence map›Paper›PMID 39825730›Full record

ArticleClinical genetics2025

Haplotype Phasing of Biallelic WNT10B Variants Using Long-Read Sequencing in Split-Hand/Foot Malformation Syndrome.

Jelena Pozojevic, Naseebullah Kakar, Henrike L Sczakiel, Nathalie Kruse, Kristian Händler, Saranya Balachandran, Varun Sreenivasan, Martin A Mensah, Malte Spielmann

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In one paragraph

Article in Clinical genetics, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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1 · What the graph read from it

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2 · The registry

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3 · Its place in the literature

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4 · The record

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5 · Who and what money

Authors and funding

9 authors.

Jelena PozojevicInstitute of Human Genetics, University Medical Center Schleswig-Holstein, University of Lübeck & Kiel University, Lübeck, Germany.
Naseebullah KakarInstitute of Human Genetics, University Medical Center Schleswig-Holstein, University of Lübeck & Kiel University, Lübeck, Germany.
Henrike L SczakielInstitute of Medical Genetics and Human Genetics, Charité-Universitätsmedizin Berlin, Corporate Member of Freie Universität Berlin and Humboldt-Universität Zu Berlin, Berlin, Germany.
Nathalie KruseInstitute of Human Genetics, University Medical Center Schleswig-Holstein, University of Lübeck & Kiel University, Lübeck, Germany.
Kristian HändlerInstitute of Human Genetics, University Medical Center Schleswig-Holstein, University of Lübeck & Kiel University, Lübeck, Germany.
Saranya BalachandranInstitute of Human Genetics, University Medical Center Schleswig-Holstein, University of Lübeck & Kiel University, Lübeck, Germany.
Varun SreenivasanInstitute of Human Genetics, University Medical Center Schleswig-Holstein, University of Lübeck & Kiel University, Lübeck, Germany.
Martin A MensahInstitute of Medical Genetics and Human Genetics, Charité-Universitätsmedizin Berlin, Corporate Member of Freie Universität Berlin and Humboldt-Universität Zu Berlin, Berlin, Germany.ORCID 0000-0001-8080-8779
Malte SpielmannInstitute of Human Genetics, University Medical Center Schleswig-Holstein, University of Lübeck & Kiel University, Lübeck, Germany.

Funding

Alexander von Humboldt-StiftungDeutsche Forschungsgemeinschaft SP1532/3-1Deutsche Forschungsgemeinschaft SP1532/4-1Deutsche Forschungsgemeinschaft SP1532/5-1Else Kröner-Fresenius-Stiftung 2022_EKEA.55
6 · The paper itself

Abstract

Split-hand/foot malformation syndrome (SHFM) is a congenital limb malformation that is both clinically and genetically heterogeneous. Variants in WNT10B are known to cause an autosomal recessive form of SHFM. Here, we report a patient born to unrelated parents who was found to be a compound heterozygote for missense variants in WNT10B: c.994C>T, p.(Arg332Trp) and c.638T>G, p.(Phe213Cys). The variants were identified using long-read PacBio sequencing, which enabled phasing and confirmed that they were located on different alleles. The maternally inherited variant p.(Arg332Trp) has been previously reported, whereas the paternally inherited variant p.(Phe213Cys) is novel and absent from the gnomAD database. Our findings highlight the utility of long-read haplotype phasing, which provides valuable insights in determining the biallelic nature of variants in recessive disorders when parental DNA samples are unavailable.

Indexed as

HaplotypesLimb Deformities, CongenitalProto-Oncogene ProteinsWnt ProteinsAllelesHumansMutation, MissensePedigreeProto-Oncogene ProteinsWNT10B protein, humanWnt Proteinshaplotype phasinglong‐read sequencingsplit‐hand/foot malformationWNT10B

Identifiers

PMID39825730
PMCPMC11973024

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