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Exclusion of Putative CATSPER2 and STRC Gene Deletion and FOXI1 Gene Mutations in a Unique Cohort with Sensorineural Deafness and Male Infertility from South India


Affiliations
1 Department of Genetics, Dr. ALM Post Graduate Institute of Basic Medical Sciences, University of Madras, Taramani Campus, Chennai 600 113, India
2 Post Graduate and Research Department of Biotechnology, Women’s Christian College, College Road, Chennai 600 006, India
3 Department of Medical Genetics, Apollo Hospitals, Chennai 600 006, India
 

Prelingual genetic deafness and male infertility can appear as isolated findings or as part of a syndrome. Deafness-Infertility Syndrome (DIS) was previously reported to be caused due to a rare contiguous gene deletion of CATSPER2 and STRC genes on chromosome 15q15.3. We tested this contiguous gene deletion in a unique cohort of 15 probands with deafness and male infertility, who were partners in assortative mating from south India. Screening for this alleged contiguous gene deletion did not test positive. Given high parental consanguinity, it is possible that infertility and deafness may not be part of a contiguous gene deletion, but two independent events. As a next option we screened another candidate gene FOXI1 (5q35.1), known to independently influence sperm maturation and also encode transcriptional factor of a deafness gene SLC26A4, to implicate for this DIS phenotype. However none of the probands had any pathogenic mutations in FOXI1 gene. Having excluded (i) DIS contiguous gene deletion and (ii) FOXI1 gene mutations’ role in this phenotype, we conclude that this unique cohort’s genetic etiology can be resolved using high-throughput NGS and CNV assessment. This approach may also identify potential linkage to any novel genes.

Keywords

Assortative Mating, Contiguous Gene Deletion, CATSPER2, STRC, p.I35S.
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  • Exclusion of Putative CATSPER2 and STRC Gene Deletion and FOXI1 Gene Mutations in a Unique Cohort with Sensorineural Deafness and Male Infertility from South India

Abstract Views: 214  |  PDF Views: 77

Authors

Justin Margret Jeffrey
Department of Genetics, Dr. ALM Post Graduate Institute of Basic Medical Sciences, University of Madras, Taramani Campus, Chennai 600 113, India
Jayasankaran Chandru
Department of Genetics, Dr. ALM Post Graduate Institute of Basic Medical Sciences, University of Madras, Taramani Campus, Chennai 600 113, India
Amritkumar Pavithra
Post Graduate and Research Department of Biotechnology, Women’s Christian College, College Road, Chennai 600 006, India
Murugesan Kalaimathi
Department of Genetics, Dr. ALM Post Graduate Institute of Basic Medical Sciences, University of Madras, Taramani Campus, Chennai 600 113, India
Nagarathinam Indhumathi
Department of Medical Genetics, Apollo Hospitals, Chennai 600 006, India
Pangadan Ashraf
Department of Genetics, Dr. ALM Post Graduate Institute of Basic Medical Sciences, University of Madras, Taramani Campus, Chennai 600 113, India
C. R. Srikumari Srisailapathy
Department of Genetics, Dr. ALM Post Graduate Institute of Basic Medical Sciences, University of Madras, Taramani Campus, Chennai 600 113, India

Abstract


Prelingual genetic deafness and male infertility can appear as isolated findings or as part of a syndrome. Deafness-Infertility Syndrome (DIS) was previously reported to be caused due to a rare contiguous gene deletion of CATSPER2 and STRC genes on chromosome 15q15.3. We tested this contiguous gene deletion in a unique cohort of 15 probands with deafness and male infertility, who were partners in assortative mating from south India. Screening for this alleged contiguous gene deletion did not test positive. Given high parental consanguinity, it is possible that infertility and deafness may not be part of a contiguous gene deletion, but two independent events. As a next option we screened another candidate gene FOXI1 (5q35.1), known to independently influence sperm maturation and also encode transcriptional factor of a deafness gene SLC26A4, to implicate for this DIS phenotype. However none of the probands had any pathogenic mutations in FOXI1 gene. Having excluded (i) DIS contiguous gene deletion and (ii) FOXI1 gene mutations’ role in this phenotype, we conclude that this unique cohort’s genetic etiology can be resolved using high-throughput NGS and CNV assessment. This approach may also identify potential linkage to any novel genes.

Keywords


Assortative Mating, Contiguous Gene Deletion, CATSPER2, STRC, p.I35S.

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DOI: https://doi.org/10.18520/cs%2Fv114%2Fi12%2F2538-2542