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. 2023 Aug 11;35(1):73-78.
doi: 10.4103/joco.joco_2_22. eCollection 2023 Jan-Mar.

Identification of a Missense Mutation in GJA8 Gene in an Iranian Family with Autosomal Dominant Congenital Cataract

Mahla Asghari  1 , Soheila Abedini  1 , Melika Farshidianfar  2 , Amir Tajbakhsh  1   3 , Akbar Derakhshan  4 , Alireza Pasdar  1   5
Affiliations

Identification of a Missense Mutation in GJA8 Gene in an Iranian Family with Autosomal Dominant Congenital Cataract

Mahla Asghari et al. J Curr Ophthalmol. .

Abstract

Purpose: To identify the causative mutations of autosomal dominant (AD) congenital cataracts in a large Iranian family.

Methods: The complete and accurate family history and clinical information of participants were collected. A total of 51 family members, including 22 affected and 29 unaffected individuals, were recruited in this study. We performed whole exome sequencing to reveal pathogenic mutation. We used amplification refractory mutation system polymerase chain reaction and Sanger sequencing techniques to confirm segregation in patients and also to rule it out in the healthy participants.

Results: A known missense mutation, c.827C>T (S276F), in GJA8 was identified. This mutation was confirmed in all patients. Neither all healthy family members nor 100 healthy individuals who served as controls from general population had this mutation.

Conclusion: The missense mutation c. 827C>T in the GJA8 gene is associated with AD congenital lamellar cataract with complete penetrance in a six-generation Iranian family.

Keywords: Autosomal dominant; Congenital cataract; GJA8; Whole exome sequencing.

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Conflict of interest statement

There are no conflicts of interest.

Figures

Figure 1
Figure 1
Pedigree of a six-generation Iranian family with congenital cataract. Circles and squares show females and males, respectively. Black and white shapes represent affected and unaffected members, respectively. The pregnant woman’s baby is symbolized by letter “P” in a diamond. The arrow indicates the proband and the deceased family members are displayed with diagonal line and asterisk symbol shows individuals who participated in our study
Figure 2
Figure 2
Sanger sequencing of the GJA8 gene in the proband confirmed a heterozygous c.827C>T change which was found in Whole exome sequencing
Figure 3
Figure 3
Polymerase chain reaction (PCR) products of double reactions amplification refractory mutation system-PCR (a) PCR products of patients’ samples with heterozygous mutation. One hundred and eighty bp indicates normal allele and 107 bp represents mutant sequence. (b) PCR products in two healthy participants in which 180 bp indicates normal sequence and 232 bp sequence is as an internal control in the PCR of mutant sequence (mutant sequence with the length of 107 bp cannot be seen in this reaction). NC: Negative control
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