Publication: Three New Mutations and Mild, Asymmetrical Phenotype in the Highly Distinctive LAMM Syndrome: A Report of Eight Further Cases.
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Identifiers
Date
2019-07-12
Authors
Al Yassin, Amina
D'Arco, Felice
Morín, Matías
Pagarkar, Waheeda
Harrop-Griffiths, Katherine
Shaida, Azhar
Fernández, Elena
Cullup, Tom
De-Souza, Bianca
Moreno-Pelayo, Miguel Angel
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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.
Description
MeSH Terms
Adult
Child, Preschool
Congenital Microtia
Consanguinity
DNA Mutational Analysis
Deafness
Ear, Inner
Female
Fibroblast Growth Factor 3
Hearing Loss, Sensorineural
Humans
Infant
Infant, Newborn
Male
Mutation
Phenotype
Tooth Abnormalities
Child, Preschool
Congenital Microtia
Consanguinity
DNA Mutational Analysis
Deafness
Ear, Inner
Female
Fibroblast Growth Factor 3
Hearing Loss, Sensorineural
Humans
Infant
Infant, Newborn
Male
Mutation
Phenotype
Tooth Abnormalities
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CIE Terms
Keywords
FGF3, LAMM syndrome, and microdontia, congenital deafness, external ear abnormalities, labyrinthine aplasia, microtia