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Article

Acrocallosal syndrome: identification of a novel KIF7 mutation and evidence for oligogenic inheritance.

European journal of medical genetics - 1 Jan 2013

Walsh Diana M, Shalev Stavit A, Simpson Michael A, Morgan Neil V, Gelman-Kohan Zulema, Chemke Juan, Trembath Richard C, Maher Eamonn R

Abstract excerpt

OBJECTIVE: Acrocallosal syndrome (ACLS) is a rare genetically heterogeneous disorder characterised by a variety of developmental anomalies including agenesis or hypoplasia of the corpus callosum. ACLS and the related disorder, hydrolethalus syndrome, have recently been reported to be caused by mutations in the KIF7 gene. In the present study we report a 15 year follow up of a consanguineous family with ACLS and...

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Source

Identifiers

PMID: 23142271
DOI: 10.1016/j.ejmg.2012.10.004

Genes

KIF7
AHI1
BBS2
BBS4

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

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Expanding the Phenotypic Spectrum of Pathogenic KIAA0586 Variants: From Joubert Syndrome to Hydrolethalus Syndrome.Semantic proximity Read ↗

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