Amish, Mennonite, and Hutterite
Genetic Disorder Database

Non-syndromic intellectual disability, autism, and gait disturbance

Disorder
OMIM #: #615516  (Click to access OMIM database)
Disorder: Non-syndromic intellectual disability, autism, and gait disturbance 
Also known as: Mental retardation, autosomal recessive 38 (MRT38)
Global Developmental Delay and Autism Spectrum Disorder 
Clinical
Phenotype: Autism Spectrum, developmental delay/mental retardation 
Seen In: Amish
Old Order Mennonite
Old Colony Mennonite
Unknown/Other Mennonite
Hutterite
Remarks:  
Mutations
ReferencesPuffenberger EG, Jinks RN, Wang H, Xin B, Fiorentini C, Sherman EA. (2012) A Homozygous Missense Mutation in HERC2 Associated with Global Developmental Delay and Autism Spectrum Disorder. Human Mutation 33(12):1639-46.
PubMed ID: 23065719
1   Amish, Old Order Mennonite  
Gene: HERC2
Base Change: C>T, at nucleotide 1781
Amino Acid Change: pro 594 --> leu
Last updated: 2015-05-22 

References
Harlalka GV, Baple EL, Cross H, K├╝hnle S, Cubillos-Rojas M, Matentzoglu K, Patton MA, Wagner K, Coblentz R, Ford DL, Mackay DJ, Chioza BA, Scheffner M, Rosa JL, Crosby AH. (2013) Mutation of HERC2 causes developmental delay with Angelman-like features. J Med Genet Feb;50(2):65-73.
PubMed ID: 23243086 
Puffenberger EG, Jinks RN, Wang H, Xin B, Fiorentini C, Sherman EA. (2012) A Homozygous Missense Mutation in HERC2 Associated with Global Developmental Delay and Autism Spectrum Disorder. Human Mutation 33(12):1639-46.
PubMed ID: 23065719 

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