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Open AccessArticle

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

1
North East Thames Regional Genetics Service, Great Ormond Street Hospital for Children NHS Foundation Trust, London WC1N 3JH, UK
2
Department of Radiology, Great Ormond Street Hospital for Children NHS Foundation Trust, London WC1N 3JH, UK
3
Servicio de Genética, Instituto Ramón y Cajal de Investigación Sanitaria (IRYCIS) and Hospital Universitario Ramón y Cajal, CIBERER, 28034 Madrid, Spain
4
North West Thames Regional Genetic Service, London North West Hospitals NHS Trust, Harrow, Middlesex HA1 3UJ, UK
5
Nuffield Hearing and Speech Centre, Royal National Throat Nose and Ear Hospital, 330 Grays Inn Road, London WC1X 8DA, UK
6
ENT Department, Royal National Throat Nose and Ear Hospital, 330 Grays Inn Road, London WC1X 8DA, UK
7
Otorhinolaryngology Department, San Cecilio Universitary Hospital, 18016 Granada, Spain
8
Genetics and Genomic Medicine Programme, UCL Great Ormond Street Institute of Child Health, 30 Guilford St, London WC1N 1EH, UK
*
Author to whom correspondence should be addressed.
These authors have contributed equally in this work.
Genes 2019, 10(7), 529; https://doi.org/10.3390/genes10070529
Received: 27 May 2019 / Revised: 4 July 2019 / Accepted: 4 July 2019 / Published: 12 July 2019
(This article belongs to the Special Issue Genetic Epidemiology of Deafness)
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. View Full-Text
Keywords: FGF3; LAMM syndrome; labyrinthine aplasia; microtia; and microdontia; congenital deafness; external ear abnormalities FGF3; LAMM syndrome; labyrinthine aplasia; microtia; and microdontia; congenital deafness; external ear abnormalities
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Al Yassin, A.; D’Arco, F.; Morín, M.; Pagarkar, W.; Harrop-Griffiths, K.; Shaida, A.; Fernández, E.; Cullup, T.; De-Souza, B.; Moreno-Pelayo, M.A.; Bitner-Glindzicz, M. Three New Mutations and Mild, Asymmetrical Phenotype in the Highly Distinctive LAMM Syndrome: A Report of Eight Further Cases. Genes 2019, 10, 529.

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