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Three New Mutations and Mild, Asymmetrical Phenotype in the Highly Distinctive LAMM Syndrome: A Report of Eight Further Cases.
Genes (Basel). 2019 07 12; 10(7)G

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.

Authors+Show Affiliations

North East Thames Regional Genetics Service, Great Ormond Street Hospital for Children NHS Foundation Trust, London WC1N 3JH, UK.Department of Radiology, Great Ormond Street Hospital for Children NHS Foundation Trust, London WC1N 3JH, UK.Servicio de Genética, Instituto Ramón y Cajal de Investigación Sanitaria (IRYCIS) and Hospital Universitario Ramón y Cajal, CIBERER, 28034 Madrid, Spain.North West Thames Regional Genetic Service, London North West Hospitals NHS Trust, Harrow, Middlesex HA1 3UJ, UK.Nuffield Hearing and Speech Centre, Royal National Throat Nose and Ear Hospital, 330 Grays Inn Road, London WC1X 8DA, UK.ENT Department, Royal National Throat Nose and Ear Hospital, 330 Grays Inn Road, London WC1X 8DA, UK.Otorhinolaryngology Department, San Cecilio Universitary Hospital, 18016 Granada, Spain.North East Thames Regional Genetics Service, Great Ormond Street Hospital for Children NHS Foundation Trust, London WC1N 3JH, UK.ENT Department, Royal National Throat Nose and Ear Hospital, 330 Grays Inn Road, London WC1X 8DA, UK.Servicio de Genética, Instituto Ramón y Cajal de Investigación Sanitaria (IRYCIS) and Hospital Universitario Ramón y Cajal, CIBERER, 28034 Madrid, Spain. mmorenop@salud.madrid.org.North East Thames Regional Genetics Service, Great Ormond Street Hospital for Children NHS Foundation Trust, London WC1N 3JH, UK. Genetics and Genomic Medicine Programme, UCL Great Ormond Street Institute of Child Health, 30 Guilford St, London WC1N 1EH, UK.

Pub Type(s)

Case Reports
Journal Article
Research Support, Non-U.S. Gov't

Language

eng

PubMed ID

31336982

Citation

Al Yassin, Amina, et al. "Three New Mutations and Mild, Asymmetrical Phenotype in the Highly Distinctive LAMM Syndrome: a Report of Eight Further Cases." Genes, vol. 10, no. 7, 2019.
Al Yassin A, D'Arco F, Morín M, et al. Three New Mutations and Mild, Asymmetrical Phenotype in the Highly Distinctive LAMM Syndrome: A Report of Eight Further Cases. Genes (Basel). 2019;10(7).
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. (2019). Three New Mutations and Mild, Asymmetrical Phenotype in the Highly Distinctive LAMM Syndrome: A Report of Eight Further Cases. Genes, 10(7). https://doi.org/10.3390/genes10070529
Al Yassin A, et al. Three New Mutations and Mild, Asymmetrical Phenotype in the Highly Distinctive LAMM Syndrome: a Report of Eight Further Cases. Genes (Basel). 2019 07 12;10(7) PubMed PMID: 31336982.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Three New Mutations and Mild, Asymmetrical Phenotype in the Highly Distinctive LAMM Syndrome: A Report of Eight Further Cases. AU - Al Yassin,Amina, AU - D'Arco,Felice, AU - Morín,Matías, AU - Pagarkar,Waheeda, AU - Harrop-Griffiths,Katherine, AU - Shaida,Azhar, AU - Fernández,Elena, AU - Cullup,Tom, AU - De-Souza,Bianca, AU - Moreno-Pelayo,Miguel Angel, AU - Bitner-Glindzicz,Maria, Y1 - 2019/07/12/ PY - 2019/05/27/received PY - 2019/07/04/revised PY - 2019/07/04/accepted PY - 2019/7/25/entrez PY - 2019/7/25/pubmed PY - 2020/1/3/medline KW - FGF3 KW - LAMM syndrome KW - and microdontia KW - congenital deafness KW - external ear abnormalities KW - labyrinthine aplasia KW - microtia JF - Genes JO - Genes (Basel) VL - 10 IS - 7 N2 - 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. SN - 2073-4425 UR - https://www.unboundmedicine.com/medline/citation/31336982/Three_New_Mutations_and_Mild,_Asymmetrical_Phenotype_in_the_Highly_Distinctive_LAMM_Syndrome:_A_Report_of_Eight_Further_Cases L2 - http://www.mdpi.com/resolver?pii=genes10070529 DB - PRIME DP - Unbound Medicine ER -