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

被引：6

作者：

Al Yassin, Amina ^{[1
]}

D'Arco, Felice ^{[2
]}

Morin, Matias ^{[3
,4
]}

Pagarkar, Waheeda ^{[5
]}

Harrop-Griffiths, Katherine ^{[6
]}

Shaida, Azhar ^{[7
]}

Fernandez, Elena ^{[8
]}

Cullup, Tom ^{[1
]}

De-Souza, Bianca ^{[7
]}

Moreno-Pelayo, Miguel Angel ^{[3
,4
]}

Bitner-Glindzicz, Maria ^{[1
,9
]}

机构：

[1] Great Ormond St Hosp Children NHS Fdn Trust, North East Thames Reg Genet Serv, London WC1N 3JH, England

[2] Great Ormond St Hosp Children NHS Fdn Trust, Dept Radiol, London WC1N 3JH, England

[3] IRYCIS, Serv Genet, Madrid 28034, Spain

[4] Hosp Univ Raman y Cajal, CIBERER, Madrid 28034, Spain

[5] London North West Hosp NHS Trust, North West Thames Reg Genet Serv, Harrow HA1 3UJ, Middx, England

[6] Royal Natl Throat Nose & Ear Hosp, Nuffield Hearing & Speech Ctr, 330 Grays Inn Rd, London WC1X 8DA, England

[7] Royal Natl Throat Nose & Ear Hosp, ENT Dept, 330 Grays Inn Rd, London WC1X 8DA, England

[8] San Cecilio Univ Hosp, Otorhinolaryngol Dept, Granada 18016, Spain

[9] UCL Great Ormond St Inst Child Hlth, Genet & Genom Med Programme, 30 Guilford St, London WC1N 1EH, England

来源：

GENES | 2019年 / 10卷 / 07期

关键词：

FGF3; LAMM syndrome; labyrinthine aplasia; microtia; and microdontia; congenital deafness; external ear abnormalities; INNER-EAR AGENESIS; FGF3; MICROTIA; DEAFNESS;

D O I：

10.3390/genes10070529

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

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.

引用

页数：14

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