Phenotypic and genetic analysis of a patient presented with Tietz/Waardenburg type II a syndrome.
- Author:
Huanhuan WANG
1
;
Lifang TANG
;
Jingmin ZHANG
;
Qin HU
;
Yingwei CHEN
;
Bing XIAO
Author Information
- Publication Type:Journal Article
- MeSH: Adult; Asian Continental Ancestry Group; genetics; China; Chromosomes, Human, Pair 3; genetics; Female; Gene Deletion; Humans; Infant; Male; Microphthalmia-Associated Transcription Factor; genetics; Pedigree; Phenotype; Polymorphism, Single Nucleotide; Waardenburg Syndrome; genetics
- From: Chinese Journal of Medical Genetics 2015;32(4):520-523
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVETo determine the genetic cause for a patient featuring decreased pigmentation of the skin and iris, hearing loss and multiple congenital anomalies.
METHODSRoutine chromosomal banding was performed to analyze the karyotype of the patient and his parents. Single nucleotide polymorphism array (SNP array) was employed to identify cryptic chromosome aberrations, and quantitative real-time PCR was used to confirm the results.
RESULTSKaryotype analysis has revealed no obvious anomaly for the patient and his parents. SNP array analysis of the patient has demonstrated a 3.9 Mb deletion encompassing 3p13p14.1, which caused loss of entire MITF gene. The deletion was confirmed by quantitative real-time PCR. Clinical features of the patient have included severe bilateral hearing loss, decreased pigmentation of the skin and iris and multiple congenital anomalies.
CONCLUSIONThe patient, carrying a 3p13p14.1 deletion, has features of Tietz syndrome/Waardenburg syndrome type IIa. This case may provide additional data for the study of genotype-phenotype correlation of this disease.
