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. Author manuscript; available in PMC: 2024 Aug 1.
Published in final edited form as: Dev Biol. 2023 May 23;500:10–21. doi: 10.1016/j.ydbio.2023.04.007

Table 3:

Genes associated with laryngeal malformations in humans. A bibliographic search was performed in PubMed and publicly available databases. Mutations in members of essential signaling pathways, including Hedgehog (HH) and Retinoic Acid were found associated with laryngeal malformations in humans. Several genes in the list are also associated with complex syndromes affecting other cartilage, bones and different organs.

Condition Gene Citation (First author, DOI or database link) Disease name Other cartilage/bone malform ations
Vocal cord palsy GDAP1 Sevilla et al. 2008, 10.1093/brain/awn228 Charcot-Marie-Tooth
Vocal cord palsy MTMR2 Dragatsis et al. 2019, 10.3389/fnins.2019.00974 Charcot-Marie-Tooth
Laryngeal cleft MID1 De Falco et al. 2003, 10.1002/ajmg.a.10265; Bhoj et al. 2019, 10.1016/j.ejmg.2018.11.022; https://www.deciphergenomics.org/patient/271794/genotype/191579/browser Opitz G/BBB syndrome Yes
Laryngeal cleft EDN1 Gordon et al. 2013, 10.1016/j.ajhg.2013.10.023 Auriculocondylar Syndrome Yes
Laryngeal cleft - bifid epiglottis GLI3 Johnston et al. 2010, 10.1002/humu.21328; Biesecker 2000–2022, Book chapter: https://www.ncbi.nlm.nih.gov/books/NBK1465/ Greig cephalopolysynd actyly, Pallister-Hall syndrome and Oral-Facial-Digital syndrome Yes (skeletal dysplasia)
Laryngeal webs HAAO Shi et al. 2017, 10.1056/NEJMoa1616361; Szot et al. 2021, 10.1002/humu.24211 Vertebral, Cardiac, Renal, and Limb defects syndrome-1 (VCRL1) Yes
Laryngeal webs - bifid epiglottis BBS10 Poulin et al. 2019, 10.1016/j.ijporl.2019.04.019; Kaur et al. 2021, 10.1136/bcr-2020-236325; Bardet-Biedl syndrome
Bifid epiglottis TTF2 Clifton-Bligh et al. 1998, 10.1038/1294 -
Laryngomalacia CHD7 Aramaki et al. 2006, 10.1016/j.jpeds.2005.10.044; Lau et al. 2020, 10.1136/bcr-2019-233037 coloboma, heart defects, choanal atresia, growth retardation, genital abnormalities, and ear abnormalities (CHARGE) syndrome Yes (trachea)
Laryngomalacia ALDH1A2 Leon et al. 2022, 10.1002/ajmg.a.62991 autosomal recessive ALDH1A2-deficient malformation syndrome
Laryngomalacia ARID1B https://www.deciphergenomics.org/patient/276863/genotype/191212/browser;
https://www.deciphergenomics.org/patient/258975/genotype/190368/browser;
https://www.deciphergenomics.org/patient/277745/genotype/218707/browser;
https://www.deciphergenomics.org/patient/260010/genotype/199882/browser;
https://www.deciphergenomics.org/patient/260753/genotype/190376/browser;
https://www.deciphergenomics.org/patient/265449/genotype/191152/browser;
https://www.deciphergenomics.org/patient/294237/genotype/197577/browser;
https://www.deciphergenomics.org/patient/261629/genotype/192877/browser 		- Yes
Laryngomalacia MYT1L https://www.deciphergenomics.org/patient/274566/genotype/210512/browser;
https://www.deciphergenomics.org/patient/281321/genotype/211860/browser 		-
Laryngomalacia NIPBL https://www.deciphergenomics.org/patient/260010/genotype/190455/browser (ARID1B mutation);
https://www.deciphergenomics.org/patient/279612/genotype/198372/browser 		-
Laryngomalacia KMT2A https://www.deciphergenomics.org/patient/264500/genotype/191353/browser;
https://www.deciphergenomics.org/patient/277208/genotype/208745/browser 		- Yes
Laryngomalacia DYNC1H1 https://www.deciphergenomics.org/patient/262719/genotype/200259/browser (add. subglottic stenosis);
https://www.deciphergenomics.org/patient/279605/genotype/193469/browser 		-
Laryngomalacia PPM1D https://www.deciphergenomics.org/patient/265370/genotype/197255/browser;
https://www.deciphergenomics.org/patient/282974/genotype/198587/browser 		- Yes
Laryngomalacia SMARCA4 https://www.deciphergenomics.org/patient/275756/genotype/191604/browser;
https://www.deciphergenomics.org/patient/263032/genotype/210255/browser;
https://www.deciphergenomics.org/patient/281321/genotype/211863/browser (MYTL1 mutation)		 - Yes
Laryngomalacia ZC4H2 https://www.deciphergenomics.org/patient/280835/genotype/197289/browser;
https://www.deciphergenomics.org/patient/296515/genotype/197553/browser 		-
Laryngotracheo-malacia SOX9 Lee et al. 2011, 10.1002/dvg.20717 Campomelic Dysplasia
Laryngotracheo-malacia TAF1 https://www.deciphergenomics.org/patient/272400/genotype/217709/browser;
https://www.deciphergenomics.org/patient/263481/genotype/197958/browser 		- Yes
Laryngeal ossification DDR2 Bargal et al. 2009, 10.1016/j.ajhg.2008.12.004 Spondyloepimeta physeal dysplasia - short limb (SMED-SL) Yes (trachea, ribs)
Laryngeal ossification and laryngeal cartilage malformations GDF6 Clarke et al. 2021, 10.3390/genes12091354 Multiple synostoses syndrome type 4 Yes
Laryngospasm GNA11 Zhang et al. 2021, 10.1016/j.endmts.2021.100106 Hypocalcaemia
Larynx and trachea stenosis FRAS1 Haelst et al. 2007, 10.1002/ajmg.a.31951 Fraser Syndrome
Vascular ring, laryngeal web, laryngotracheo-malacia, and subglottic stenosis chromosom e 22q11.2: TBX1 Kelly et al. 2004, 10.1093/hmg/ddh304; Haddad et al. 2019, 10.1186/s40842-019-0087-6 22q11.2d/Di George Syndrome
Larynx hypoplasia chromosom e 5p15.3 Mainardi 2006, 10.1186/1750-1172-1-33 Cri du chat syndrome