Implication of the SH3TC2 gene in Charcot-Marie-Tooth disease associated with deafness and/or scoliosis: Illustration with four new pathogenic variants.
Journal of the Neurological Sciences. 2019-11-01; 406: 116376
DOI: 10.1016/j.jns.2019.06.027
Lire sur PubMed
1. J Neurol Sci. 2019 Nov 15;406:116376. doi: 10.1016/j.jns.2019.06.027. Epub 2019
Jun 26.
Implication of the SH3TC2 gene in Charcot-Marie-Tooth disease associated with
deafness and/or scoliosis: Illustration with four new pathogenic variants.
Lerat J(1), Magdelaine C(2), Lunati A(2), Dzugan H(2), Dejoie C(3), Rego M(3),
Beze Beyrie P(4), Bieth E(5), Calvas P(5), Cintas P(6), Delaubrier A(7), Demurger
F(8), Gilbert-Dussardier B(9), Goizet C(10), Journel H(8), Laffargue F(11), Magy
L(12), Taithe F(13), Toutain A(14), Urtizberea JA(15), Sturtz F(2), Lia AS(2).
Author information:
(1)Service Oto-Rhino-Laryngologie, Centre Hospitalier Universitaire de Limoges,
Limoges, France; EA6309, Université de Limoges, Limoges, France. Electronic
address: .
(2)EA6309, Université de Limoges, Limoges, France; Service de Biochimie et
Génétique Moléculaire, Centre Hospitalier Universitaire de Limoges, Limoges,
France.
(3)Service de Biochimie et Génétique Moléculaire, Centre Hospitalier
Universitaire de Limoges, Limoges, France.
(4)Centre Hospitalier de Pau, Pédiatrie, France.
(5)Service de Génétique Médicale, Centre Hospitalier Universitaire de Toulouse,
Toulouse, France.
(6)Service de Neurologie et d’explorations fonctionnelles, Centre Hospitalier
Universitaire de Toulouse, Toulouse, France.
(7)Service de Médecine Physique et Rééducation, Centre Hospitalier Universitaire
de Poitiers, Poitiers, France.
(8)Service de Génétique Médicale, Centre Hospitalier Bretagne Atlantique, Vannes,
France.
(9)Service de Génétique Médicale, Centre Hospitalier Universitaire de Poitiers,
Poitiers, France; EA3808, Université de Poitiers, Poitiers, France.
(10)Service de Neurogénétique, Centre Hospitalier Universitaire de Bordeaux,
Bordeaux, France.
(11)Service de Génétique médicale, Centre Hospitalier Universitaire de
Clermont-Ferrand, Limoges, France.
(12)EA6309, Université de Limoges, Limoges, France; Service de Neurologie, Centre
Hospitalier Universitaire de Limoges, Limoges, France.
(13)Service de Neurologie, Centre Hospitalier Universitaire de Clermont-Ferrand,
Limoges, France.
(14)Service de Génétique, Centre Hospitalier Universitaire de Tours, Tours,
France.
(15)Centre de Compétence Neuromusculaire, APHP, Filnemus, Centre Hospitalier
Hendaye, France.
The autosomal recessive demyelinating form of Charcot-Marie-Tooth can be due to
SH3TC2 gene pathogenic variants (CMT4C, AR-CMTde-SH3TC2). We report on a series
of 13 patients with AR-CMTde-SH3TC2 among a French cohort of 350 patients
suffering from all type of inheritance peripheral neuropathy. The SH3TC2 gene
appeared to be the most frequently mutated gene for demyelinating neuropathy in
this series by NGS. Four new pathogenic variants have been identified: two
nonsense variants (p.(Tyr970*), p.(Trp1199*)) and two missense variants
(p.(Leu1126Pro), p.(Ala1206Asp)). The recurrent variant p.Arg954* was present in
62%, and seems to be a founder mutation. The phenotype is fairly homogeneous, as
all these patients, except the youngest ones, presented scoliosis and/or hearing
loss.
Copyright © 2019 Elsevier B.V. All rights reserved.
DOI: 10.1016/j.jns.2019.06.027
PMID: 31634715 [Indexed for MEDLINE]