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Three New Mutations and Mild, Asymmetrical Phenotype in the Highly Distinctive LAMM Syndrome: A Report of Eight Further Cases

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 con...

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Autores principales: 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, Bitner-Glindzicz, Maria
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2019
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6678228/
https://www.ncbi.nlm.nih.gov/pubmed/31336982
http://dx.doi.org/10.3390/genes10070529
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author 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
Bitner-Glindzicz, Maria
author_facet 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
Bitner-Glindzicz, Maria
author_sort Al Yassin, Amina
collection PubMed
description 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.
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spelling pubmed-66782282019-08-19 Three New Mutations and Mild, Asymmetrical Phenotype in the Highly Distinctive LAMM Syndrome: A Report of Eight Further Cases 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 Bitner-Glindzicz, Maria Genes (Basel) Article 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. MDPI 2019-07-12 /pmc/articles/PMC6678228/ /pubmed/31336982 http://dx.doi.org/10.3390/genes10070529 Text en © 2019 by the authors. Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (http://creativecommons.org/licenses/by/4.0/).
spellingShingle Article
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
Bitner-Glindzicz, Maria
Three New Mutations and Mild, Asymmetrical Phenotype in the Highly Distinctive LAMM Syndrome: A Report of Eight Further Cases
title Three New Mutations and Mild, Asymmetrical Phenotype in the Highly Distinctive LAMM Syndrome: A Report of Eight Further Cases
title_full Three New Mutations and Mild, Asymmetrical Phenotype in the Highly Distinctive LAMM Syndrome: A Report of Eight Further Cases
title_fullStr Three New Mutations and Mild, Asymmetrical Phenotype in the Highly Distinctive LAMM Syndrome: A Report of Eight Further Cases
title_full_unstemmed Three New Mutations and Mild, Asymmetrical Phenotype in the Highly Distinctive LAMM Syndrome: A Report of Eight Further Cases
title_short Three New Mutations and Mild, Asymmetrical Phenotype in the Highly Distinctive LAMM Syndrome: A Report of Eight Further Cases
title_sort three new mutations and mild, asymmetrical phenotype in the highly distinctive lamm syndrome: a report of eight further cases
topic Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6678228/
https://www.ncbi.nlm.nih.gov/pubmed/31336982
http://dx.doi.org/10.3390/genes10070529
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