Amish, Mennonite, and Hutterite
Genetic Disorder Database

Mental retardation, autosomal recessive 41 (MRT41)

Disorder
OMIM #: #615637  (Click to access OMIM database)
Disorder: Mental retardation, autosomal recessive 41 (MRT41) 
Also known as:  
Clinical
Phenotype: global developmental delay, mildly delayed walking, high levels of anxiety, stereotyped behavior, repetitive speech; dysmorphic features include macrocephaly with frontal bossing, craniosynostosis, scaphocephaly, broad nasal bridge, hooded eyelids with small, downslanting palpebral fissures, prominent chin; seizure disorder; childhood hypotonia 
Seen In: Amish
Old Order Mennonite
Old Colony Mennonite
Unknown/Other Mennonite
Hutterite
Remarks:  
Mutations
1   Amish  
Gene: KPTN
Base Change: C>A, at nucleotide 776
Amino Acid Change: ser 259 --> term
2   Amish  
Gene: KPTN
Base Change: c.714_731dup18
Amino Acid Change: p.Met241_Gln246dup
Last updated: 2015-04-23 

References
Baple EL, Maroofian R, Chioza BA, Izadi M, Cross HE, Al-Turki S, Barwick K, Skrzypiec A, Pawlak R, Wagner K, Coblentz R, Zainy T, Patton MA, Mansour S, Rich P, Qualmann B, Hurles ME, Kessels MM, Crosby AH. (2014) Mutations in KPTN cause macrocephaly, neurodevelopmental delay, and seizures. Am J Hum Genet Jan 2;94(1):87-94.
PubMed ID: 24239382 

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