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CASE REPORT
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
Turkey
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/jhnps.jhnps_14_22

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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.


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