[email protected] (受疫情影响,东南亚目前只开放曼谷诊所)
全周 (9AM - 5PM)


Extra info thumb
  • 总部: 泰国曼谷市巴吞汪区仑披尼分区 普勒吉路齐隆巷5号.
  • [email protected]


HGNC Approved Gene Symbol: ZNF277Cytogenetic location: 7q31.1 Genomic coordinates (GRCh38): 7:112,206,611-112,343,933 (from NCBI)▼ TEXTZinc finger proteins a...

HGNC Approved Gene Symbol: ZNF277

Cytogenetic location: 7q31.1 Genomic coordinates (GRCh38): 7:112,206,611-112,343,933 (from NCBI)

Zinc finger proteins are linked to the control of growth and differentiation (see IKAROS, also called ZNFN1A1; 603023).

▼ Cloning and Expression
By searching for putative tumor suppressor genes on 7q31.1, followed by searching an EST database and screening cDNA libraries, Liang et al. (2000) identified a cDNA encoding ZNF277. The predicted 438-amino acid protein has 5 putative zinc finger motifs. Northern blot analysis of hematopoietic tissues detected a 1.8-kb transcript in spleen, lymph node, peripheral blood leukocytes, and fetal liver.

▼ Gene Structure
Liang et al. (2000) determined by genomic sequence analysis that the ZNF277 gene spans more than 100 kb and contains 12 exons.

▼ Molecular Genetics
For discussion of a possible association between specific language impairment (SLI; see 606711) and variation in the ZNF277 gene, see 605465.0001.

▼ ALLELIC VARIANTS ( 1 Selected Example):

ZNF277, 4.2-KB DEL
This variant is classified as a variant of unknown significance because its contribution to specific language impairment (SLI; see 606711) has not been confirmed.

In a Caucasian girl, born of unrelated parents, with specific language impairment, Ceroni et al. (2014) identified a homozygous 4,153-bp microdeletion encompassing exon 5 of the ZNF277 gene, resulting in a frameshift and premature termination in exon 7, predicted to result in complete lack of a functional ZNF277 protein. The deletion was found during a copy number variation (CNV) analysis of SNP array data. Each parent, who had language problems in childhood, was heterozygous for the mutation. The mother had dyslexia and the father had speech impairment. However, the deletion was not found in the brother of the proband, who also had mild impairment of early expressive speech and language. DNA from an affected sister of the proband was not available for study. Screening of 322 families with SLI identified a similar heterozygous microdeletion in 1.1% of probands (7 of 636 chromosomes), whereas the population frequency of the microdeletion in controls from several databases was estimated to be 0.4%. Although the difference in frequency did not reach statistical significance, Ceroni et al. (2014) suggested that loss of ZNF277 may represent a risk factor for the development of SLI.

Tags: 7q31.1