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Journal:Middle East Journal of Medical Genetics.

Key Words:CHYS1, phenotype definition, skeletal development, Temtamy preaxial brachydactylysyndrome

Abstract: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.

Indexed by:Journal paper

Discipline:Natural Science

First-Level Discipline:Biology

Document Type:J

Translation or Not:no

Date of Publication:2012-05-25

Included Journals:SCI