• Users Online: 366
  • Home
  • Print this page
  • Email this page
Home About us Editorial board Ahead of print Current issue Search Archives Submit article Instructions Subscribe Contacts Login 
Year : 2022  |  Volume : 10  |  Issue : 1  |  Page : 112-115

Identification of a novel KIF11 variant p.(Leu804Thrfs Ter13) in a case with isolated microcephaly

Department of Medical Genetics, Trakya University Faculty of Medicine, Edirne, Turkey

Correspondence Address:
Sinem Yalcintepe
Department of Medical Genetics, Trakya University Faculty of Medicine, Edirne 22030
Login to access the Email id

Source of Support: None, Conflict of Interest: None

DOI: 10.4103/jhnps.jhnps_14_22

Rights and Permissions

Microcephaly is a rare neurological condition, and it is characterized by a smaller head than other children of the same age and sex. Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation (MLCRD) is a syndrome with a varying spectrum that occurs as a result of variants of KIF11 gene. A 3-year-old girl was presented to our clinic with microcephaly; she had no motor or growth retardation except microcephaly. After obtaining a normal karyotype and microarray result, Trusight One-Expanded Panel analysis showed NM_004523.4 (KIF11): c. 2409dupA (p. Leu804Thrfs Ter13) heterozygous pathogenic novel variant. Patients who have KIF11 mutation often also have different clinical features; in our case, the motor development is consistent with its peers and has a history of prenatal and postnatal microcephaly. Microcephaly can be caused by a variety of genetic mutations. In our case, firstly we identify the association of a novel de novo KIF11 gene duplication variant related to isolated microcephaly.

Print this article     Email this article
 Next article
 Previous article
 Table of Contents

 Similar in PUBMED
   Search Pubmed for
   Search in Google Scholar for
 Related articles
 Citation Manager
 Access Statistics
 Reader Comments
 Email Alert *
 Add to My List *
 * Requires registration (Free)

 Article Access Statistics
    PDF Downloaded3    
    Comments [Add]    

Recommend this journal