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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...
Autores principales: | , , , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
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MDPI
2019
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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. |
format | Online Article Text |
id | pubmed-6678228 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2019 |
publisher | MDPI |
record_format | MEDLINE/PubMed |
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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