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Aim <p>Autosomal recessive non-syndromic hearing loss (ARNSHL) is a common congenital condition, with <i>GJB2</i> and <i>GJB6</i> mutations playing a major role in its genetic etiology. While previous studies in India have focused on hearing-impaired individuals, this is the first large - scale study with an aim to assess <i>GJB2/GJB6</i> carrier status in an Indian newborn cohort. The goal was to generate region-specific data supporting the integration of genetic screening into newborn hearing loss programs and inform the development of an India-specific panel for early diagnosis and intervention.</p> Materials and Methods <p>A total of 2,159 newborns (1,065 males and 1,094 females) born at Tertiary - care Hospital, Pune, were enrolled following informed parental consent. Dried blood spot samples were collected by heel prick, anonymized, and subjected to DNA extraction using the QIAamp DNA Blood Mini Kit. Targeted sequencing of <i>GJB2</i> and <i>GJB6</i> was performed using Ion AmpliSeq™ primers and the Ion Torrent S5 platform. Variants were annotated and classified based on ACMG guidelines.</p> Results <p>Among 2,159 successfully sequenced individuals, 65 carriers of <i>GJB2</i> mutations and 2 carriers of <i>GJB6</i> mutations were identified, yielding a <i>GJB2</i> carrier frequency of 3.01%. The most frequent mutation was c.71G &gt; A (1.72%), followed by c.487&#xa0;A &gt; G and c.1&#xa0;A &gt; G. A total of 12 <i>GJB2</i> variants were observed, with no founder effect, highlighting high allelic heterogeneity.</p> Conclusion <p>This is the largest Indian newborn carrier screening study for <i>GJB2/GJB6</i>. Our results emphasize the value of population-specific genetic screening for early detection and genetic counselling in hearing loss management.</p>

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Comprehensive Analysis of GJB2 and GJB6 Mutations in Indian Newborns: Largest Single—Centre Carrier Frequency Study from Pune, India

  • 期刊论文

  • 发表日期：

    2026年2月10日

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  • Preeti Arora,
  • Shweta Jangam,
  • Apoorva Joshi,
  • Sanjay Gupte,
  • Aarti Shah,
  • Sarjan Shah

摘要

Aim

Autosomal recessive non-syndromic hearing loss (ARNSHL) is a common congenital condition, with GJB2 and GJB6 mutations playing a major role in its genetic etiology. While previous studies in India have focused on hearing-impaired individuals, this is the first large - scale study with an aim to assess GJB2/GJB6 carrier status in an Indian newborn cohort. The goal was to generate region-specific data supporting the integration of genetic screening into newborn hearing loss programs and inform the development of an India-specific panel for early diagnosis and intervention.

Materials and Methods

A total of 2,159 newborns (1,065 males and 1,094 females) born at Tertiary - care Hospital, Pune, were enrolled following informed parental consent. Dried blood spot samples were collected by heel prick, anonymized, and subjected to DNA extraction using the QIAamp DNA Blood Mini Kit. Targeted sequencing of GJB2 and GJB6 was performed using Ion AmpliSeq™ primers and the Ion Torrent S5 platform. Variants were annotated and classified based on ACMG guidelines.

Results

Among 2,159 successfully sequenced individuals, 65 carriers of GJB2 mutations and 2 carriers of GJB6 mutations were identified, yielding a GJB2 carrier frequency of 3.01%. The most frequent mutation was c.71G > A (1.72%), followed by c.487 A > G and c.1 A > G. A total of 12 GJB2 variants were observed, with no founder effect, highlighting high allelic heterogeneity.

Conclusion

This is the largest Indian newborn carrier screening study for GJB2/GJB6. Our results emphasize the value of population-specific genetic screening for early detection and genetic counselling in hearing loss management.