Human Genetics

, Volume 138, Issue 1, pp 105–107 | Cite as

A novel ISLR2-linked autosomal recessive syndrome of congenital hydrocephalus, arthrogryposis and abdominal distension

  • Anas M. Alazami
  • Sateesh Maddirevula
  • Mohamed Zain Seidahmed
  • Lulu A. Albhlal
  • Fowzan S. AlkurayaEmail author
Short Communication


ISLR2 (immunoglobulin superfamily containing leucine-rich repeat 2), encodes a protein involved in axon guidance in brain development (hence the other name leucine-rich repeat domain- and immunoglobulin domain-containing axon extension proteins; LINX). A recently described mouse knockout displays hydrocephalus. However, the corresponding phenotype in humans is unknown. Here, we describe a multiplex consanguineous family in which a homozygous truncating variant in ISLR2 segregates with severe congenital hydrocephalus, arthrogryposis multiplex congenita and abdominal distension. We suggest this syndrome may represent the human “knockout” phenotype for ISLR2.



We thank the study family for their enthusiastic participation. We also thank the Genotyping and Sequencing Core Facilities at KFSHRC for their technical support. This work was supported in part by KSCDR grant (FSA). We acknowledge the support of the Saudi Human Genome Program.

Compliance with ethical standards

Conflict of interest

Authors declare no conflict of interest.


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Copyright information

© Springer-Verlag GmbH Germany, part of Springer Nature 2018

Authors and Affiliations

  • Anas M. Alazami
    • 1
  • Sateesh Maddirevula
    • 1
  • Mohamed Zain Seidahmed
    • 2
  • Lulu A. Albhlal
    • 3
  • Fowzan S. Alkuraya
    • 1
    • 4
    Email author
  1. 1.Department of GeneticsKing Faisal Specialist Hospital and Research CentreRiyadhSaudi Arabia
  2. 2.Department of PediatricsSecurity Forces HospitalRiyadhSaudi Arabia
  3. 3.Department of Pathology and Laboratory MedicineSecurity Forces HospitalRiyadhSaudi Arabia
  4. 4.Department of Anatomy and Cell Biology, College of MedicineAlfaisal UniversityRiyadhSaudi Arabia

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