autism features

Microcephaly 20, Primary, Autosomal Recessive

Clinical Characteristics
Ocular Features: 

Microphthalmia and optic nerve hypoplasia with "blindness" seem to be common.

Systemic Features: 

Short stature and global developmental delay are usually present.  Poor or absent speech is characteristic and intellectual disability may be severe.  Few individuals can walk.  Foot deformities and hypotonia are often present.  Behavior problems are common having features of ADHD, autism, and aggression.  Foot deformities have been noted. 

Imaging of the brain may reveal cerebellar hypoplasia, a simplified gyral pattern, and absence of the corpus callosum. 

Genetics

Homozygous or compound heterozygous mutations in the KIF14 gene (1q32.1) are responsible for this disorder.

Pedigree: 
Autosomal recessive
Treatment
Treatment Options: 

No treatment has been reported.

References
Article Title: 

Biallelic variants in KIF14 cause intellectual disability with microcephaly

Makrythanasis P, Maroofian R, Stray-Pedersen A, Musaev D, Zaki MS, Mahmoud IG, Selim L, Elbadawy A, Jhangiani SN, Coban Akdemir ZH, Gambin T, Sorte HS, Heiberg A, McEvoy-Venneri J, James KN, Stanley V, Belandres D, Guipponi M, Santoni FA, Ahangari N, Tara F, Doosti M, Iwaszkiewicz J, Zoete V, Backe PH, Hamamy H, Gleeson JG, Lupski JR, Karimiani EG, Antonarakis SE. Biallelic variants in KIF14 cause intellectual disability with microcephaly. Eur J Hum Genet. 2018 Mar;26(3):330-339.

PubMed ID: 
29343805

Mutations of KIF14 cause primary microcephaly by impairing cytokinesis

Moawia A, Shaheen R, Rasool S, Waseem SS, Ewida N, Budde B, Kawalia A, Motameny S, Khan K, Fatima A, Jameel M, Ullah F, Akram T, Ali Z, Abdullah U, Irshad S, Hohne W, Noegel AA, Al-Owain M, Hortnagel K, Stobe P, Baig SM, Nurnberg P, Alkuraya FS, Hahn A, Hussain MS. Mutations of KIF14 cause primary microcephaly by impairing cytokinesis. Ann Neurol. 2017 Oct;82(4):562-577.

PubMed ID: 
28892560
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