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Article

Long-Read Whole-Genome Sequencing Uncovers a Deletion Upstream to HOXD13 Causing Synpolydactyly.

American journal of medical genetics. Part A - 1 Oct 2025

Rips Jonathan, Birnbaum Rivka, Jalas Chaim, Frumkin Ayala, Zenvirt Shamir, Rachanaev Julia, Shaag Avraham, Harel Tamar, Elpeleg Orly, Mor-Shaked Hagar

Abstract excerpt

Synpolydactyly (SPD) is a heterogeneous distal-limb malformation syndrome, characterized by webbing and duplication of adjacent digits. SPD1, the most common type, is attributed to disease-causing variants in HOXD13, a transcription factor in the HOXD cluster that is essential for limb development. Here, we present a challenging exome-negative case of familial SPD. The case was resolved using long-read genome...

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Source

Identifiers

PMID: 40444971
DOI: 10.1002/ajmg.a.64130

Genes

HOXD13
EVX2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026.

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