RPGR is mutated in patients with a complex X linked phenotype combining primary ciliary dyskinesia and retinitis pigmentosa

Moore, A.; Escudier, Estelle; Roger, Gilles; Tamalet, Aline; Pelosse, B; Marlin, Sandrine; Clément, Annick; Geremek, Maciej; Delaisi, Bertrand; Bridoux, Anne-Marie; Coste, A.; Witt, Michał; Duriez, Bénédicte; Amselem, Serge

doi:10.1136/jmg.2005.034868

Cited by 225 publications

(175 citation statements)

References 47 publications

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“…Two main genes, DNAI1 and DNAH5 have been identified to date [33,34] for PCD with isolated ODA defects and the other identified genes (i.e. RPGR, TXNDC3, DNAH1, DNAI2, KTU, RSPH9 and RSPH4A) concern a few PCD families [35][36][37][38][39][40]. The identification of the ciliary ultrastructural defect by TEM analysis could also be helpful for genetic analysis.…”

Section: Discussionmentioning

confidence: 99%

A 20-year experience of electron microscopy in the diagnosis of primary ciliary dyskinesia

Papon¹,

Coste²,

Roudot‐Thoraval³

et al. 2009

European Respiratory Journal

137

134

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Transmission electron microscopy (TEM) analysis of ciliary ultrastructure is classically used for the diagnosis of primary ciliary dyskinesia (PCD). We report our extensive experience of TEM analysis in a large series of patients in order to evaluate its feasibility and results.TEM analysis performed in 1,149 patients with suspected PCD was retrospectively reviewed. Biopsies (1,450) were obtained from nasal (44%) or bronchial (56%) mucosa in children (66.5%) and adults (33.5%).TEM analysis was feasible in 71.4% of patients and showed a main defect suggestive of PCD in 29.9%. TEM was more feasible in adults than in children, regardless of the biopsy site. Main defects suggestive of PCD were found in 76.9% of patients with sinopulmonary symptoms and in only 0.4% of patients with isolated upper and 0.4% with isolated lower respiratory tract infections. The defect pattern was similar in children and adults, involving dynein arms (81.2%) or central complex (CC) (18.8%). Situs inversus was never observed in PCD patients with CC defect. Kartagener syndrome with normal ciliary ultrastructure was not an exceptional condition (10.2% of PCD).In conclusion, TEM analysis is feasible in most patients and is particularly useful for PCD diagnosis in cases of sinopulmonary syndrome of unknown origin.

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Section: Discussionmentioning

confidence: 99%

A 20-year experience of electron microscopy in the diagnosis of primary ciliary dyskinesia

Papon¹,

Coste²,

Roudot‐Thoraval³

et al. 2009

European Respiratory Journal

137

134

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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

European Respiratory Journal

458

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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“…Mutations of RPGR cause XLRP. Several defects in axonemal structure and motility are observed in XLRP patients, including missing dynein arms and disorganization of ciliary orientation [132]. OFD1 is a coiled-coil protein with a LisH domain, located at the base of the cilium [170].…”

Section: Deficiency In Other Axonemal Substructuresmentioning

confidence: 99%

Sperm dysfunction and ciliopathy

Inaba

Mizuno

2015

Reprod Medicine & Biology

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RPGR is mutated in patients with a complex X linked phenotype combining primary ciliary dyskinesia and retinitis pigmentosa

Cited by 225 publications

References 47 publications

A 20-year experience of electron microscopy in the diagnosis of primary ciliary dyskinesia

A 20-year experience of electron microscopy in the diagnosis of primary ciliary dyskinesia

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

Sperm dysfunction and ciliopathy

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