RT Journal Article
T1 Three New Mutations and Mild, Asymmetrical Phenotype in the Highly Distinctive LAMM Syndrome: A Report of Eight Further Cases.
A1 Al Yassin, Amina
A1 D'Arco, Felice
A1 Morín, Matías
A1 Pagarkar, Waheeda
A1 Harrop-Griffiths, Katherine
A1 Shaida, Azhar
A1 Fernández, Elena
A1 Cullup, Tom
A1 De-Souza, Bianca
A1 Moreno-Pelayo, Miguel Angel
A1 Bitner-Glindzicz, Maria
K1 FGF3
K1 LAMM syndrome
K1 and microdontia
K1 congenital deafness
K1 external ear abnormalities
K1 labyrinthine aplasia
K1 microtia
AB Labyrinthine aplasia, microtia, and microdontia (LAMM) is an autosomal recessive condition causing profound congenital deafness, complete absence of inner ear structures (usually Michel's aplasia), microtia (usually type 1) and microdontia. To date, several families have been described with this condition and a number of mutations has been reported. We report on eight further cases of LAMM syndrome including three novel mutations, c. 173T>C p.L58P; c. 284G>A p.(Arg95Gln) and c.325_327delinsA p.(Glu109Thrfs*18). Congenital deafness was the primary presenting feature in all affected individuals and consanguinity in all but two families. We compare the features in our patients to those previously reported in LAMM, and describe a milder, asymmetrical phenotype associated with FGF3 mutations.
YR 2019
FD 2019-07-12
LK http://hdl.handle.net/10668/14293
UL http://hdl.handle.net/10668/14293
LA en
DS RISalud
RD Apr 11, 2025