A truncation mutation in the <i>L1CAM</i> gene in a child with hydrocephalus

Madhan Srinivasamurthy; Nagaraj Kakanahalli; Shreeshail V. Benakanal; Madhan Srinivasamurthy; Nagaraj Kakanahalli; Shreeshail V. Benakanal

doi:10.3934/molsci.2021017

AIMS Molecular Science

2021, Volume 8, Issue 4: 223-232. doi: 10.3934/molsci.2021017

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Research article

A truncation mutation in the L1CAM gene in a child with hydrocephalus

1.
Molecular Genetics Laboratory, Department of Applied Zoology, Kuvempu University, Jnanasahyadri, Shankaraghatta, Shivamogga, Karnataka, 577451, India
2.
Department of Paediatrics, Shivamogga Institute of Medical Sciences (SIMS), Shivamogga, Karnataka, 577201, India

Received: 28 July 2021 Accepted: 14 September 2021 Published: 11 October 2021

Hydrocephalus is a neurodevelopmental, X-linked recessive disorder caused by mutations in the L1CAM gene. The L1CAM gene encodes for L1CAM protein which is essential for the nervous system development including adhesion between neurons, Myelination, Synaptogenesis etc. Herein, the present study has reported mutations in L1 syndrome patient with Hydrocephalus and Adducted thumb. Genomic DNA was extracted from patients whole blood (n = 18). The 11 exons of the L1CAM gene were amplified using specific PCR primers. The sequenced data was analysed and the pathogenicity of the mutation was predicted using the various bioinformatics programs: PROVEAN, PolyPhen2, and MUpro. The results revealed that the proband described here had nonsense mutation G1120→T at position 1120 in exon 9 which is in extracellular immunoglobulin domain (Ig4) of the L1CAM gene. This nonsense mutation is found to be truncated with a deleterious effect on developing brain of the child, and this is the first report of this novel mutation in patient with X-linked Hydrocephalus in India.
- L1CAM,
- hydrocephalus,
- adducted thumb,
- X-linked recessive,
- nonsense mutation
Citation: Madhan Srinivasamurthy, Nagaraj Kakanahalli, Shreeshail V. Benakanal. A truncation mutation in the L1CAM gene in a child with hydrocephalus[J]. AIMS Molecular Science, 2021, 8(4): 223-232. doi: 10.3934/molsci.2021017

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Abstract

Hydrocephalus is a neurodevelopmental, X-linked recessive disorder caused by mutations in the L1CAM gene. The L1CAM gene encodes for L1CAM protein which is essential for the nervous system development including adhesion between neurons, Myelination, Synaptogenesis etc. Herein, the present study has reported mutations in L1 syndrome patient with Hydrocephalus and Adducted thumb. Genomic DNA was extracted from patients whole blood (n = 18). The 11 exons of the L1CAM gene were amplified using specific PCR primers. The sequenced data was analysed and the pathogenicity of the mutation was predicted using the various bioinformatics programs: PROVEAN, PolyPhen2, and MUpro. The results revealed that the proband described here had nonsense mutation G1120→T at position 1120 in exon 9 which is in extracellular immunoglobulin domain (Ig4) of the L1CAM gene. This nonsense mutation is found to be truncated with a deleterious effect on developing brain of the child, and this is the first report of this novel mutation in patient with X-linked Hydrocephalus in India.

Acknowledgments

We are thankful to the University Grants Commission (F. No. 41-95/2012 SR), New Delhi, India, for financial support. The proposal for this study was approved by the Institutional Ethical Committee of the University (No. KU/IEC/05-09/2014-15).

Conflict of interest

The authors declare no conflict of interest for this study.

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