Author:
Yassin ,D’Arco ,Morín ,Pagarkar ,Harrop-Griffiths ,Shaida ,Fernández ,Cullup ,De-Souza ,Moreno-Pelayo ,Bitner-Glindzicz
Abstract
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.
Funder
Instituto de Salud Carlos III
CIBERER
Subject
Genetics(clinical),Genetics
Cited by
9 articles.
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