Definition of the phenotypic spectrum of Temtamy preaxial brachydactyly syndrome associated with autosomal recessive CHYS1 mutations
- 影响因子：5.703
- 发表刊物：Middle East Journal of Medical Genetics.
- 关键字：CHYS1, phenotype definition, skeletal development, Temtamy preaxial brachydactylysyndrome
- 摘要：Background
Temtamy preaxial brachydactyly syndrome (OMIM: 605282) is a rare autosomalrecessive disorder first described in 1998. In 2010, CHYS1 was identified as thecausative gene. So far, the syndrome has been reported and homozygous CHYS1mutations have been confirmed in 11 patients from consanguineous familiesoriginating from Turkey (n=3), Egypt (n= 2), Pakistan ( n=3), Jordan (n= 2), andSri Lanka (n= 1).
Patients and methods
Here, we report on five new Egyptian patients with Temtamy preaxial brachydactylysyndrome from three consanguineous families. Phenotype analysis of all reportedpositive cases in the literature, including our patients (n= 16), is carried out to definethe characteristic clinical features of this syndrome.
Results
All five patients were found to have recessive mutations in CHYS1. One family wascompound heterozygous and all the other families carried homozygous missensemutations. Phenotype analysis of all reported positive cases in the literature definedand confirmed the characteristic clinical features, mainly the facial dysmorphism,typical digital malformations, and associated anomalies.
Conclusion and recommendations
We conclude that Temtamy preaxial brachydactyly syndromeTPBS is an easilyidentifiable dysmorphic syndrome. The rarity of worldwide reports could be because ofunderdiagnosis. Because of some phenotypic overlap with other preaxialbrachydactyly syndromes, further clinical and molecular research is required to definepossible genetic heterogeneity, genotype–phenotype correlations, and the functionalrole of encoded proteins in digital differentiation and development.
- 论文类型：期刊论文
- 学科门类：理学
- 一级学科：生物学
- 文献类型：J
- 是否译文：否
- 发表时间：2012-05-25
- 收录刊物：SCI
