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LAMM Syndrome
Transcript
Tempestt P, Lexis M.
Congenital Deafness and Labyrinthine Aplasia Microtia and Microdontia
In other words, LAMM Syndrome.
Disorder Basics
- Rare with unknown prevalence
- Caused by mutations in the FGF3 gene
- Symptoms include small, widely spaced teeth and malformed ears
- Life span is relatively the same as normal individuals; healthy adults that have LAMM Syndrome reportedly reach their 40s and 50s
https://www.omicsonline.org/open-access/a-novel-mutation-involving-the-initiation-codon-of-fgf-in-a-family-described-with-complete-inner-ear-agenesis-microtia-and-major-microdontia-lamm-syndrome-2157-7412-5-251.php?aid=32732&view=mobile
Nervous System
- Parts of the nervous system that are affected include ears, specifically the inner ears
https://en.wikipedia.org/wiki/Inner_ear
Cell Division
Cell Divison/Molecular Biology
- FGF3 is located on chromosome 11 at position 13.3
- mutation occurs because of a subtitution
- subtitution results in a missense or nonsense mutation
https://ghr.nlm.nih.gov/gene/FGF3#conditions
Reproduction and Development
- Ectoderm and mesoderm are affected by LAMM Syndrome.
- Motor skills delay during infancy.
- Diagnosis can be confirmed by molecular genetic testing of FGF3
- Similar symptoms occur in Down's Syndrome
https://www.askiitians.com/forums/8-grade-science/what-are-1-ectoderm-2-mesoderm-3-endoderm-ple_111460.htm
Genetics
Genetics
- Inherited as an autosomal recessive pattern
- Caused by mutations in the FGF3 gene
- FGF3 is the only gene known that is likely to cause LAMM syndrome
- The parents of an affected child are obligate heterozygotes (carriers of one mutated allele)
http://www.sliderbase.com/spitem-647-1.html
Genetics
Population Genetics
- Each sibling of an affected individual has a 25% chance of being affected, 50% chance of being a carrier, and 25% chance of being s non-carrier.
- LAMM Syndrome has been reported in 56 individuals in 13 unrelated families globally
- There is no certain population that has a higher frequency of the disorder.
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