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Year : 2021  |  Volume : 35  |  Issue : 1  |  Page : 61-65

A new gene mutation in a family with idiopathic infantile nystagmus

1 Neuro-ophthalmology Division, King Khaled Eye Specialist Hospital, Riyadh, Saudi Arabia
2 Orthoptics Division, Clinical Orthoptist, Vision Eye Institute; Orthoptics Division, Save Sight Institute, University of Sydney, New South Wales, Australia

Correspondence Address:
Dr. Alberto Galvez-Ruiz
King Khaled Eye Specialist Hospital, Riyadh
Saudi Arabia
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Source of Support: None, Conflict of Interest: None

DOI: 10.4103/1319-4534.325787

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Idiopathic infantile nystagmus (IIN) is an inherited disease, which can occur through a number of different inheritance patterns (autosomal dominant, recessive, or X-linked). The most common of these is X-linked inheritance with incomplete penetrance and variable expressivity, and can also be dominant or recessive. To date, only two mutations have been described: the first, affecting the FPR143 gene, which is associated with ocular albinism type I, and located on chromosome Xp22, and the second, affecting the FRMD7 gene located on chromosome X26-q27. To date, a causative gene on locus Xp11.3p11.4 has not yet been identified. The most common cause of IIN is due to mutations in the FRMD7 gene, located on chromosome Xq26. We present a case of a new mutation found in three siblings from a family with FRMD7-related infantile nystagmus, whose parents are consanguineously related in the first degree. A complex mutation has occurred in this family, which, to date, has not been previously reported in the scientific literature. The complex mutation consists of the presence of three consecutive 1 bp deletions in exon 12 (c.1248delT; 1299del C; and 1312delT), causing a secondary deletion (c. 1340–2145 + 214del), and resulting in a truncated protein. We also present a 7-year-old patient from a different family, with periodic alternating nystagmus, having no mutation in the FRMD7 gene, which we assume may be an example of non-FRMD7-related IIN. This patient does not have a family history of nystagmus.

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