Two novel missense mutations in FGD4/FRABIN cause Charcot-Marie-Tooth type 4H (CMT4H)

被引：21

作者：

Baudot, Cecile ^{[1
,2
]}

Esteve, Clothilde ^{[1
,2
]}

Castro, Christel ^{[1
,2
]}

Poitelon, Yannick ^{[1
,2
]}

Mas, Camille ^{[1
,2
]}

Hamadouche, Tarik ^{[3
,4
]}

El-Rajab, Maryam ^{[5
]}

Levy, Nicolas ^{[1
,2
,6
]}

Megarbane, Andre ^{[7
]}

Delague, Valerie ^{[1
,2
]}

机构：

[1] Fac Med Timone, INSERM, UMR 910, F-13385 Marseille 05, France

[2] Aix Marseille Univ, UMR 910, Fac Med Timone, Marseille, France

[3] Univ Mhamed Bougara, Mol Biol Lab, Boumerdes, Algeria

[4] Univ Alger, Neurosci Lab, Algiers, Algeria

[5] Makassed Gen Hosp, Dept Pediat, Beirut, Lebanon

[6] Hop Enfants La Timone, AP HM, Dept Med Genet, Marseille, France

[7] Univ St Joseph, Fac Med, Lab Int Associe Inserm, Unite Genet Med, Beirut, Lebanon

来源：

JOURNAL OF THE PERIPHERAL NERVOUS SYSTEM | 2012年 / 17卷 / 02期

关键词：

Charcot-Marie-Tooth disease; disease gene; FRABIN; homozygous mutation; missense; neuropathy; peripheral nerve; EXCHANGE FACTOR; RHO-GTPASES; FRABIN; DISEASE; PROTEIN; DOMAIN; ACTIVATION; HOMOLOGY; BIOLOGY; CDC42;

D O I：

10.1111/j.1529-8027.2012.00405.x

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

100204 [神经病学];

摘要：

By sequencing of the FGD4 coding sequence in a cohort of 101 patients affected by autosomal recessive demyelinating Charcot-Marie-Tooth disease (CMT), we have identified two novel missense mutations in FGD4 in two patients from consanguineous descent: p.Arg442His in an Algerian patient and p.Met566Ile in a Lebanese girl. The patients present early onset, slowly progressive CMT, with drastic reduction of nerve conduction velocities. These mutations are the second and third missense mutations characterized in FGD4. They are likely to lead to conformational changes in the PH1 and FYVE domains.

引用

页码：141 / 146

页数：6

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