Clinical and immunohistochemical evidence for an X linked retinitis pigmentosa syndrome with recurrent infections and hearing loss in association with an RPGR mutation

Iannaccone, Alessandro; Breuer, Debra K.; Wang, X.F.; Kuo, Sharon F.; Normando, Eduardo; Филиппова, Елена; Baldi, Alfonso; Hiriyanna, Suja; MacDonald, Charles B.; Baldi, Fabio; Cosgrove, Dominic; Morton, C.C.; Swaroop, Anand; Jablonski, Monica M.

doi:10.1016/j.ajo.2004.04.036

Cited by 35 publications

(50 citation statements)

References 8 publications

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“…This role is consistent with the occurrence of hearing dysfunction, respiratory infections, and cilia dyskinesis in some rare cases of syndromic RPGR-XLRP (van Dorp et al 1992;Iannaccone et al 2003;Koenekoop et al 2003;Zito et al 2003;Iannaccone et al 2004;Moore et al 2006;Bukowy-Bieryllo et al 2013). …”

Section: Rpgr and Its Roles In The Photoreceptor Connecting Ciliummentioning

confidence: 54%

Gene Augmentation for X-Linked Retinitis Pigmentosa Caused by Mutations in RPGR

Beltran

Cideciyan

Lewin

et al. 2014

Cold Spring Harbor Perspectives in Medicine

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Section: Rpgr and Its Roles In The Photoreceptor Connecting Ciliummentioning

confidence: 54%

Gene Augmentation for X-Linked Retinitis Pigmentosa Caused by Mutations in RPGR

Beltran

Cideciyan

Lewin

et al. 2014

Cold Spring Harbor Perspectives in Medicine

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“…In a minority of cases, other inheritance patterns have been recognised [23]. Furthermore, X-linked recessive retinitis pigmentosa, sensory hearing deficits and PCD have been associated with mutations in the retinitis pigmentosa guanosine triphosphatase regulator gene (RPGR), essential for photoreceptor maintenance and viability [24][25][26][27][28][29][30]. In addition, BUDNY et al [31] described a single family with a novel syndrome that is caused by oral-facial-digital type 1 syndrome gene (OFD1) mutations, and characterised by X-linked recessive mental retardation, macrocephaly and PCD.…”

Section: Genetics and Inheritancementioning

confidence: 99%

Primary ciliary dyskinesia: a consensus statement on diagnostic and treatment approaches in children

Barbato¹,

Frischer²,

Kuehni³

et al. 2009

Eur Respir J

465

587

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Primary ciliary dyskinesia (PCD) is associated with abnormal ciliary structure and function, which results in retention of mucus and bacteria in the respiratory tract, leading to chronic oto-sino-pulmonary disease, situs abnormalities and abnormal sperm motility.The diagnosis of PCD requires the presence of the characteristic clinical phenotype and either specific ultrastructural ciliary defects identified by transmission electron microscopy or evidence of abnormal ciliary function.Although the management of children affected with PCD remains uncertain and evidence is limited, it remains important to follow-up these patients with an adequate and shared care system in order to prevent future lung damage.This European Respiratory Society consensus statement on the management of children with PCD formulates recommendations regarding diagnostic and therapeutic approaches in order to permit a more accurate approach in these patients. Large well-designed randomised controlled trials, with clear description of patients, are required in order to improve these recommendations on diagnostic and treatment approaches in this disease.

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“…RPGR ORF15 exon mutations account for 30 to 60% of RXLRP and mutations in other RPGR exons account for 11 to 26% of RXLRP Mears et al, 1999;Vervoort et al, 2000;Breuer et al, 2002;Sharon et al, 2003]. In addition to RXLRP, RPGR mutations have been described in families segregating RP in both males and females [Rozet et al, 2002], X-linked recessive atrophic macular degeneration or cone degeneration [Ayyagari et al, 2002], X-linked cone-rod dystrophy [Mears et al, 2000;Demirci et al, 2002;Ebenezer et al, 2005], RP and Coats'-like exudative vasculopathy [Demirci et al, 2006], or even RP associated with extraocular ciliary disorders, including recurrent respiratory infections [Iannaccone et al, 2003], deafness, sinorespiratory infections [Zito et al, 2003], and primary ciliary dyskinesia [Moore et al, 2006].…”

Section: Introductionmentioning

confidence: 99%

Comprehensive survey of mutations in RP2 and RPGR in patients affected with distinct retinal dystrophies: genotype–phenotype correlations and impact on genetic counseling

et al. 2006

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Communicated by Daniel F. Schorderet X-linked forms of retinitis pigmentosa (RP) (XLRP) account for 10 to 20% of families with RP and are mainly accounted for by mutations in the RP2 or RP GTPase regulator (RPGR) genes. We report the screening of these genes in a cohort of 127 French family comprising: 1) 93 familial cases of RP suggesting X-linked inheritance, including 48 out of 93 families with expression in females but no male to male transmission; 2) seven male sibships of RP; 3) 25 sporadic male cases of RP; and 4) two cone dystrophies (COD). A total of 5 out of the 93 RP families excluded linkage to the RP2 and RP3 loci and were removed form the cohort. A total of 14 RP2 mutations, 12 of which are novel, were identified in 14 out of 88 familial cases of RP and 1 out of 25 sporadic male case (4%). In 13 out of 14 of the familial cases, no expression of the disease was noted in females, while in 1 out of 14 families one woman developed RP in the third decade. A total of 42 RPGR mutations, 26 of which were novel, were identified in 80 families, including: 69 out of 88 familial cases (78.4%); 2 out of 7 male sibship (28.6%); 8 out of 25 sporadic male cases (32.0%); and 1 out of 2 COD. No expression of the disease was noted in females in 41 out of 69 familial cases (59.4%), while at least one severely affected woman was recognized in 28 out of 69 families (40.6%). The frequency of RP2 and RPGR mutations in familial cases of RP suggestive of X-linked transmission are in accordance to that reported elsewhere . Interestingly, about 30% of male sporadic cases and 30% of male sibships of RP carried RP2 or RPGR mutations, confirming the pertinence of the genetic screening of XLRP genes in male patients affected with RP commencing in the first decade and leading to profound visual impairment before the age of 30 years. Hum Mutat 28(1), [81][82][83][84][85][86][87][88][89][90][91] 2007.

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Clinical and immunohistochemical evidence for an X linked retinitis pigmentosa syndrome with recurrent infections and hearing loss in association with an RPGR mutation

Cited by 35 publications

References 8 publications

Gene Augmentation for X-Linked Retinitis Pigmentosa Caused by Mutations in RPGR

Gene Augmentation for X-Linked Retinitis Pigmentosa Caused by Mutations in RPGR

Primary ciliary dyskinesia: a consensus statement on diagnostic and treatment approaches in children

Comprehensive survey of mutations in RP2 and RPGR in patients affected with distinct retinal dystrophies: genotype–phenotype correlations and impact on genetic counseling

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