Cataracts, Congenital, Intellectual Disability, Abnormal Striatum, and ADHD

Clinical Characteristics

Ocular Features:

Cataracts (not further described) were described as congenital although the diagnosis was usually made early in the first decade of life. One patient was diagnosed at the age of 8 years with glaucoma and a cloudy cornea of the left eye. Another patient had cataract surgery. Visual acuities have not been reported.

Systemic Features:

Four members of a consanguineous Saudi family have been reported with growth and mental retardation, microcephaly, dystonia, and spasticity. IQs in the range of 77-89 were reported. Linguistic delay is common. Dysarthria and decreased cognitive function are present. MRIs revealed thinning of the lentiform nucleus and swelling of the caudate heads.

Genetics

Homozygous mutations in the KCNA4 [1] (11p14.1) (176266 [1]) gene are responsible for this disorder.

Treatment

Treatment Options:

No treatment is available for the general condition. Cataract surgery may be considered.

References

Article Title:

KCNA4 deficiency leads to a syndrome of abnormal striatum, congenital cataract and intellectual disability [2]

Kaya N, Alsagob M, D'Adamo MC, Al-Bakheet A, Hasan S, Muccioli M, Almutairi FB, Almass R, Aldosary M, Monies D, Mustafa OM, Alyounes B, Kenana R, Al-Zahrani J, Naim E, Binhumaid FS, Qari A, Almutairi F, Meyer B, Plageman TF, Pessia M, Colak D, Al-Owain M. KCNA4 deficiency leads to a syndrome of abnormal striatum, congenital cataract and intellectual disability. J Med Genet. 2016 Aug 31. pii: jmedgenet-2015-103637. doi: 10.1136/jmedgenet-2015-103637. [Epub ahead of print].

PubMed ID:

27582084

A novel syndrome of abnormal striatum and congenital cataract: evidence for linkage to chromosomes 11 [3]

Al-Owain M, Al-Zahrani J, Al-Bakheet A, Abudheim N, Al-Younes B, Aldhalaan H, Al-Zaidan H, Colak D, Almohaileb F, Abouzied ME, Al-Fadhli F, Meyer B, Kaya N. A novel syndrome of abnormal striatum and congenital cataract: evidence for linkage to chromosomes 11. Clin Genet. 2013 Sep;84(3):258-64.

PubMed ID:

23181898