Kerkeni E, Boubaker S, Sfar S, Bizid M, Besbes H, Bouaziz S, Ghedira N, Amara A, Manoubi W, Gribaa M, Monastiri K
Research Unit 01/UR/08-14, Faculty of Medicine of Monastir, University of Monastir, Monastir, Tunisia.
Research Unit 01/UR/08-14, Faculty of Medicine of Monastir, University of Monastir, Monastir, Tunisia.
Pathol Biol (Paris). 2015 Jun;63(3):113-6. doi: 10.1016/j.patbio.2015.03.004. Epub 2015 Apr 21.
The present study is aimed at performing the molecular characterization of a Tunisian family with piebaldism.
As the proband and her mother showed a severe phenotype, we first chose to screen exons 10, 11, 12, 13, 16, 17 and 18 of the KIT proto-oncogene by direct sequencing.
Direct sequencing analysis showed a C to T substitution at 1939 in exon 13 (c.1939C>T) in heterozygous state in the patient and her mother. The mutation was not found in their unaffected family members or normal controls.
Our results provide additional support that mutations in the tyrosine kinase domain of the KIT gene are responsible for the severe form of piebaldism.
本研究旨在对一个患有斑驳病的突尼斯家族进行分子特征分析。
由于先证者及其母亲表现出严重的表型，我们首先选择通过直接测序对KIT原癌基因的第10、11、12、13、16、17和18外显子进行筛查。
直接测序分析显示，患者及其母亲的第13外显子1939位存在杂合状态的C到T替换（c.1939C>T）。在其未受影响的家庭成员或正常对照中未发现该突变。
我们的结果进一步支持了KIT基因酪氨酸激酶结构域的突变是导致严重形式斑驳病的原因。
