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

Cécile Baudot , Clothilde Esteve (1) , Christel Castro (1) , Yannick Poitelon (1) , Camille Mas , Tarik Hamadouche (2) , Maryam El-Rajab , Nicolas Lévy (3, 1) , Andre Megarbane (4) , Valérie Delague (1)

1 GMGF - Génétique Médicale et Génomique Fonctionnelle
2 Laboratoire de biologie moléculaire
3 Département de génétique médicale [Hôpital de la Timone - APHM]
4 IBCP - Institut de biologie et chimie des protéines [Lyon]

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.

Domains: Human genetics

Cécile Baudot, Clothilde Esteve, Christel Castro, Yannick Poitelon, Camille Mas, et al.. Two novel missense mutations in FGD4/FRABIN cause Charcot-Marie-Tooth type 4H (CMT4H). Journal of the Peripheral Nervous System, 2012, 17 (2), pp.141 - 146. ⟨10.1111/j.1529-8027.2012.00405.x⟩. ⟨hal-01721501⟩