Retinitis Pigmentosa-Deafness Syndrome

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Retrieved

2019-09-22

Source

Omim

Trials

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Genes

MYO7A, PCDH15, HARS1, PLD4, USH1C, ADGRV1, USH2A, CDH23, CEP250, ARSG, PROM1, CLRN1, ZDHHC24, CDH23-AS1, TRNS2, BBS1, GUCA1A, WHRN, USH1G, PDZD7, CIB2, GJB2, ESPN, HTC2, GC, CEP78, ABHD12, PCARE, GPR166P, LGR6, INTS2, VN1R17P, MRGPRX1, FADS6, MRGPRX3, MRGPRX4, ASIC5, GPR151, OXER1, LCA5, GPRC6A, VEZT, ACTB, MYO15A, PRPH2, ENG, FGF3, GBX2, MEF2C, MYO5B, NOTCH2, NUCB2, OMP, PEX6, RCVRN, RPGR, PHPT1, SOX3, STATH, USH1E, WFS1, FZD4, OTOF, CIB1, ASAH1, NINL, LPAR3, IMMT

Drugs

Adeno-associated virus serotype 8 containing the human RdCVF sequence and the human RdCVFL sequence, Combination of three adeno-associated viral vectors of serotype 8 containing the 5'-, the body- and the 3'- coding sequences of human CEP290 fused to inteins, Lentiviral vector containing the human MYO7A gene, Mixture of two adeno-associated viral vectors serotype 8 containing the 5'-half sequence of human MYO7A gene and the 3'-half sequence of human MYO7A gene

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A number sign (#) is used with this entry because of evidence that a retinitis pigmentosa-deafness syndrome is due to mutation in the MTTS2 gene (590085).

Clinical Features

Kumar-Singh et al. (1993) reported an extensive Irish kindred segregating retinitis pigmentosa and deafness. Affected members usually presented first with hearing difficulties in their teens. In their twenties, patients noted symptoms referable to impairment of night vision and loss of peripheral visual fields. Affected individuals showed abnormal electroretinographic responses before the onset of symptoms, however.

Kenna et al. (1997) reported observations on the same large kindred segregating retinitis pigmentosa and sensorineural hearing impairment. The retinopathy in this kindred was typical of retinitis pigmentosa. Members of the pedigree who were examined also demonstrated a subclinical myopathy as evidenced by abnormal skeletal muscle histology, electromyography, and electrocardiography. None of the affected individuals had external ocular muscle movement disorders to suggest Kearns-Sayre syndrome (530000).

Mapping

Using polymorphic microsatellite markers, Kumar-Singh et al. (1993) excluded linkage of the retinitis pigmentosa-deafness syndrome in the Irish kindred to chromosome 3q (180380), 6q (608133), and the pericentric region of chromosome 8 (180100). They also excluded linkage to markers on Xp and to the region of chromosome 1q where Usher syndrome type II (276901) maps. In a report on the same family, Kumar-Singh et al. (1993) indicated that linkage to the 5 previously defined forms of autosomal dominant RP could be excluded.

Kenna et al. (1997) found linkage of the disease locus in the same Irish kindred to markers D9S118, D9S122, and ASS (603470) on 9q34 with lod scores of 3.75 (theta = 0.10), 3.41 (theta = 0.10), and 3.25 (theta = 0.15). However, multipoint and haplotype analyses on this family by Mansergh et al. (1999) excluded linkage to this region of 9q.

Molecular Genetics

In the large Irish family reported by Kumar-Singh et al. (1993) and Kenna et al. (1997), Mansergh et al. (1999) identified a mutation in the mitochondrial genome, i.e., a 12258C-A change (590085.0001) in the MTTS2 gene.