#613809
Table of Contents
A number sign (#) is used with this entry because retinitis pigmentosa-39 (RP39) is caused by homozygous or compound heterozygous mutation in the USH2A gene (608400) on chromosome 1q41.
Mutations in the same gene cause Usher syndrome type IIA (USH2A; 276901).
Retinitis pigmentosa-39 (RP39) is characterized by the typical features of RP, including constriction of visual fields and reduced vision, with the fundus showing bone-spicule pigment deposition and attenuation of retinal vessels (Kaiserman et al., 2007; Jung et al., 2023).
For a general phenotypic description and a discussion of genetic heterogeneity of retinitis pigmentosa (RP), see 268000.
Rivolta et al. (2002) described a patient with isolated RP who had complete paternal heterodisomy for chromosome 1. Clinical findings were typical, including fundi with attenuated retinal vessels and intraretinal bone spicule pigment around the periphery. Electroretinograms (ERGs) were reduced but detectable at the age of 54 years. This patient had been part of the study of Rivolta et al. (2000).
Kaiserman et al. (2007) studied a large Iraqi Jewish family with a complex pattern of inheritance in which some family members suffered from Usher syndrome type 2 while others had nonsyndromic RP. At the age of 66 years, the mother in the nuclear family had advanced RP with nonrecordable ERG responses and severely constricted visual fields. Her 3 daughters with RP (aged 32 to 39 years) had somewhat less severe retinal disease, but all were legally blind.
Jung et al. (2023) reported 10 Korean probands with RP and mutation in the USH2A gene. The mean age of the probands was 50 years, and 3 were women. The authors described the eye findings in a 60-year-old male whose visual acuity was reduced to hand motion only: fundus photography showed bone-spicule pigment deposition and attenuation of retinal vessels, and spectral domain optical coherence tomography (SD-OCT) showed disruption of the photoreceptor cell layer. The authors noted that hearing tests were not performed in the study because no hearing problems were reported by any of the probands.
The transmission pattern of RP39 in the family reported by Kaiserman et al. (2007) was consistent with autosomal recessive inheritance.
The patient described by Rivolta et al. (2000) and Rivolta et al. (2002) with RP and homozygosity for a cys759-to-phe mutation in the USH2A gene (608400.0006) was determined to be completely paternally heterodisomic for chromosome 1 with isodisomic segments at the distal ends of the long and short arms.
In the large Iraqi Jewish family studied by Kaiserman et al. (2007), 3 different mutations in the USH2A gene caused 2 phenotypes. Two of the mutations were null (2139insCGAT, 608400.0010 and R737X, 608400.0011) and were found in affected individuals with either Usher syndrome or RP; a novel missense mutation (R4674G; 608400.0012) was specific to the RP phenotype.
McGee et al. (2010) screened the long isoform of USH2A in 80 patients with nonsyndromic autosomal recessive RP and identified at least 1 deleterious mutation in 19% of cases. The authors stated that their findings supported USH2A as the most common known cause of RP in the United States.
In a cohort of 94 Korean probands with RP, Jung et al. (2023) analyzed the USH2A gene and identified 10 probands who were compound heterozygous for mutations in the USH2A gene (see, e.g., 608400.0016-608400.0018).
Jung, S., Park, Y. C., Lee, D., Kim, S., Kim, S.-M., Kim, Y., Lee, D., Hyun, J., Koh, I., Lee, J.-Y. Exome sequencing identified five novel USH2A variants in Korean patients with retinitis pigmentosa. Ophthalmic Genet. 44: 163-170, 2023. [PubMed: 36314366, related citations] [Full Text]
Kaiserman, N., Obolensky, A., Banin, E., Sharon, D. Novel USH2A mutations in Israeli patients with retinitis pigmentosa and Usher syndrome type 2. Arch. Ophthal. 125: 219-224, 2007. Note: Erratum: Arch. Ophthal. 125: 1013 only, 2007. [PubMed: 17296898, related citations] [Full Text]
McGee, T. L., Seyedahmadi, B. J., Sweeney, M. O., Dryja, T. P., Berson, E. L. Novel mutations in the long isoform of the USH2A gene in patients with Usher syndrome type II or non-syndromic retinitis pigmentosa. J. Med. Genet. 47: 499-506, 2010. [PubMed: 20507924, related citations] [Full Text]
Rivolta, C., Berson, E. L., Dryja, T. P. Paternal uniparental heterodisomy with partial isodisomy of chromosome 1 in a patient with retinitis pigmentosa without hearing loss and a missense mutation in the Usher syndrome type II gene USH2A. Arch. Ophthal. 120: 1566-1571, 2002. [PubMed: 12427073, related citations] [Full Text]
Rivolta, C., Sweklo, E. A., Berson, E. L., Dryja, T. P. Missense mutation in the USH2A gene: association with recessive retinitis pigmentosa without hearing loss. Am. J. Hum. Genet. 66: 1975-1978, 2000. [PubMed: 10775529, related citations] [Full Text]
ORPHA: 791; DO: 0110360;
| Location | Phenotype |
Phenotype MIM number |
Inheritance |
Phenotype mapping key |
Gene/Locus |
Gene/Locus MIM number |
|---|---|---|---|---|---|---|
| 1q41 | Retinitis pigmentosa 39 | 613809 | Autosomal recessive | 3 | USH2A | 608400 |
A number sign (#) is used with this entry because retinitis pigmentosa-39 (RP39) is caused by homozygous or compound heterozygous mutation in the USH2A gene (608400) on chromosome 1q41.
Mutations in the same gene cause Usher syndrome type IIA (USH2A; 276901).
Retinitis pigmentosa-39 (RP39) is characterized by the typical features of RP, including constriction of visual fields and reduced vision, with the fundus showing bone-spicule pigment deposition and attenuation of retinal vessels (Kaiserman et al., 2007; Jung et al., 2023).
For a general phenotypic description and a discussion of genetic heterogeneity of retinitis pigmentosa (RP), see 268000.
Rivolta et al. (2002) described a patient with isolated RP who had complete paternal heterodisomy for chromosome 1. Clinical findings were typical, including fundi with attenuated retinal vessels and intraretinal bone spicule pigment around the periphery. Electroretinograms (ERGs) were reduced but detectable at the age of 54 years. This patient had been part of the study of Rivolta et al. (2000).
Kaiserman et al. (2007) studied a large Iraqi Jewish family with a complex pattern of inheritance in which some family members suffered from Usher syndrome type 2 while others had nonsyndromic RP. At the age of 66 years, the mother in the nuclear family had advanced RP with nonrecordable ERG responses and severely constricted visual fields. Her 3 daughters with RP (aged 32 to 39 years) had somewhat less severe retinal disease, but all were legally blind.
Jung et al. (2023) reported 10 Korean probands with RP and mutation in the USH2A gene. The mean age of the probands was 50 years, and 3 were women. The authors described the eye findings in a 60-year-old male whose visual acuity was reduced to hand motion only: fundus photography showed bone-spicule pigment deposition and attenuation of retinal vessels, and spectral domain optical coherence tomography (SD-OCT) showed disruption of the photoreceptor cell layer. The authors noted that hearing tests were not performed in the study because no hearing problems were reported by any of the probands.
The transmission pattern of RP39 in the family reported by Kaiserman et al. (2007) was consistent with autosomal recessive inheritance.
The patient described by Rivolta et al. (2000) and Rivolta et al. (2002) with RP and homozygosity for a cys759-to-phe mutation in the USH2A gene (608400.0006) was determined to be completely paternally heterodisomic for chromosome 1 with isodisomic segments at the distal ends of the long and short arms.
In the large Iraqi Jewish family studied by Kaiserman et al. (2007), 3 different mutations in the USH2A gene caused 2 phenotypes. Two of the mutations were null (2139insCGAT, 608400.0010 and R737X, 608400.0011) and were found in affected individuals with either Usher syndrome or RP; a novel missense mutation (R4674G; 608400.0012) was specific to the RP phenotype.
McGee et al. (2010) screened the long isoform of USH2A in 80 patients with nonsyndromic autosomal recessive RP and identified at least 1 deleterious mutation in 19% of cases. The authors stated that their findings supported USH2A as the most common known cause of RP in the United States.
In a cohort of 94 Korean probands with RP, Jung et al. (2023) analyzed the USH2A gene and identified 10 probands who were compound heterozygous for mutations in the USH2A gene (see, e.g., 608400.0016-608400.0018).
Jung, S., Park, Y. C., Lee, D., Kim, S., Kim, S.-M., Kim, Y., Lee, D., Hyun, J., Koh, I., Lee, J.-Y. Exome sequencing identified five novel USH2A variants in Korean patients with retinitis pigmentosa. Ophthalmic Genet. 44: 163-170, 2023. [PubMed: 36314366] [Full Text: https://doi.org/10.1080/13816810.2022.2138456]
Kaiserman, N., Obolensky, A., Banin, E., Sharon, D. Novel USH2A mutations in Israeli patients with retinitis pigmentosa and Usher syndrome type 2. Arch. Ophthal. 125: 219-224, 2007. Note: Erratum: Arch. Ophthal. 125: 1013 only, 2007. [PubMed: 17296898] [Full Text: https://doi.org/10.1001/archopht.125.2.219]
McGee, T. L., Seyedahmadi, B. J., Sweeney, M. O., Dryja, T. P., Berson, E. L. Novel mutations in the long isoform of the USH2A gene in patients with Usher syndrome type II or non-syndromic retinitis pigmentosa. J. Med. Genet. 47: 499-506, 2010. [PubMed: 20507924] [Full Text: https://doi.org/10.1136/jmg.2009.075143]
Rivolta, C., Berson, E. L., Dryja, T. P. Paternal uniparental heterodisomy with partial isodisomy of chromosome 1 in a patient with retinitis pigmentosa without hearing loss and a missense mutation in the Usher syndrome type II gene USH2A. Arch. Ophthal. 120: 1566-1571, 2002. [PubMed: 12427073] [Full Text: https://doi.org/10.1001/archopht.120.11.1566]
Rivolta, C., Sweklo, E. A., Berson, E. L., Dryja, T. P. Missense mutation in the USH2A gene: association with recessive retinitis pigmentosa without hearing loss. Am. J. Hum. Genet. 66: 1975-1978, 2000. [PubMed: 10775529] [Full Text: https://doi.org/10.1086/302926]
Dear OMIM User,
To ensure long-term funding for the OMIM project, we have diversified our revenue stream. We are determined to keep this website freely accessible. Unfortunately, it is not free to produce. Expert curators review the literature and organize it to facilitate your work. Over 90% of the OMIM's operating expenses go to salary support for MD and PhD science writers and biocurators. Please join your colleagues by making a donation now and again in the future. Donations are an important component of our efforts to ensure long-term funding to provide you the information that you need at your fingertips.
Thank you in advance for your generous support,
Ada Hamosh, MD, MPH
Scientific Director, OMIM