RPGRIP1L mutations are mainly associated with the cerebello-renal phenotype of Joubert syndrome-related disorders

被引：63

作者：

Brancati, F. ^{[2
,3
]}

Travaglini, L. ^{[4
]}

Zablocka, D. ^{[5
]}

Boltshauser, E. ^{[6
]}

Accorsi, P. ^{[7
]}

Montagna, G. ^{[4
]}

Silhavy, J. L. ^{[5
]}

Barrano, G.

Bertini, E. ^{[8
]}

Emma, F. ^{[9
]}

Rigoli, L. ^{[10
]}

Dallapiccola, B. ^{[4
]}

Gleeson, J. G. ^{[5
]}

Valente, E. M. ^{[1
,10
]}

机构：

[1] CSS Mendel Inst, Ist Ricovero & Cura Carattere Sci, Neurogenet Unit, I-00198 Rome, Italy

[2] G Annunzio Univ Fdn, CeSI, Aging Res Ctr, Chieti, Italy

[3] G Annunzio Univ Fdn, Dept Biomed Sci, Chieti, Italy

[4] Univ Roma La Sapienza, Dept Expt Med & Pathol, Rome, Italy

[5] Univ Calif San Diego, Neurogenet Lab, Dept Neurosci, La Jolla, CA 92093 USA

[6] Childrens Univ Hosp, Dept Neurol, Zurich, Switzerland

[7] AO Spedali Civili, Div Child Neuropsychiat, Brescia, Italy

[8] Bambino Gesu Pediat Hosp, Dept Lab Med, Rome, Italy

[9] Bambino Gesu Pediat Hosp, Dept Nephrol, Ist Ricovero & Cura Carattere Sci, Rome, Italy

[10] Univ Messina, Dept Med & Surg Paediat Sci, Messina, Italy

来源：

CLINICAL GENETICS | 2008年 / 74卷 / 02期

关键词：

Joubert syndrome-related disorders; molar tooth sign; nephronophthisis; RPGRIP1L;

D O I：

10.1111/j.1399-0004.2008.01047.x

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Joubert syndrome-related disorders (JSRDs) are autosomal recessive pleiotropic conditions sharing a peculiar cerebellar and brainstem malformation known as the 'molar tooth sign' (MTS). Recently, mutations in a novel ciliary gene, RPGRIP1L, have been shown to cause both JSRDs and Meckel-Gruber syndrome. We searched for RPGRIP1L mutations in 120 patients with proven MTS and phenotypes representative of all JSRD clinical subgroups. Two homozygous mutations, the previously reported p.T615P in exon 15 and the novel c.2268_2269delA in exon 16, were detected in 2 of 16 families with cerebello-renal presentation (similar to 12%). Conversely, no pathogenic changes were found in patients with other JSRD phenotypes, suggesting that RPGRIP1L mutations are largely confined to the cerebello-renal subgroup, while they overall represent a rare cause of JSRD (< 2%).

引用

页码：164 / 170

页数：7

共 15 条

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