Mendelian Diseases
Multifactorial Diseases
Disease A B C D E F G H I J K L M N O P Q R S T U V W X Y Z [0-9]
Gene A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

Spondylo-megaepiphyseal-metaphyseal dysplasia

OMIM:613330
Mode of inheritance:Autosomal recessive
Disease classification:Congenital malformations and chromosomal abnormalities


Mutations

Gene SymbolNKX3-2
Reference transcriptNM_001189.3
DNA Changec.104_110delCGCCCGG
A.A. ChangeFrameshift and premature protein truncation
Exon/Intronexon 1
Mutation Typedeletion
ReferenceHellemans J, Simon M, Dheedene A, Alanay Y, Mihci E, Rifai L, Sefiani A, van Bever Y, Meradji M, Superti-Furga A, Mortier G.Homozygous inactivating mutations in the NKX3-2 gene result in spondylo-megaepiphyseal-metaphyseal dysplasia.
Am J Hum Genet. 2009 Dec;85(6):916-22.