Intragenic deletion mutation in the gene desmoglein 4 underlies autosomal recessive hypotrichosis in six consanguineous families

Objectives: Localized autosomal recessive hypotrichosis is a non-syndromic human hair loss disorder, affecting scalp, eyebrows and eyelashes, and other parts of the body. Six consanguineous families with this form of hair loss disorder were investigated at both the clinical and molecular levels

Methods: Linkage in six families with twenty-one affected members was tested by genotyping microsatellite markers linked to autosomal recessive hypotrichosis loci including localized autosomal recessive hypotrichosis [LAH] 1, 2 and 3. Sequence analysis of the entire coding and splice sites of the gene DSG4 was performed to search for the disease-causing mutation

Results: Genotyping established linkage in families to the DSG4 gene at LAH1 locus on chromosome 18q21.1. Sequence analysis detected an intragenic deletion mutation [Ex5_8 del] in affected members of all six families

Conclusion: Identification of recurrent mutation in six additional Pakistani families strengthens the body of evidence that this is an ancestral mutation that is widespread among different Pakistani ethnic groups

Surgical incidence of cholelithiasis in Hyderabad and adjoining areas [Pakistan]

To determine the surgical incidence of cholelithiasis in Hyderabad and adjoining areas. Design: Cross sectional study. Settings: Surgical Units of Liaquat University of Medical and Health Sciences, Jamshoro; Memon Charitable Hospital; Wali Bhai Rajputana Hospital; Naseem Medical Center; and Isra University Hospital, Hyderabad. Patients: 483 male and 1583 female patients of 10 to 80 years age surgically treated for gallstones during the years 1999 to 2001. Measurements: The surgical incidence of cholelithiasis for the period January 1999 to December 2001 was studied with the help of a questionnaire designed to know the dietary habits, age, sex and month of presentation of gallstone cases. Of the gallstone patients treated, the surgical incidence in mates was found to be 4.0% [95% CI, 3.6 - 4.5] and in females 14.2% [CI, 14.1 - 15.7], constituting male to female ratio 1:3.3. May and November were the peak months for the presentation of gallstone cases. The age range for male gallstone patients was 10 to 78 years and for females 11 to 80. The peak age group for the occurrence of gallstones in males was 45-59 years and in females 30-44. Females between the ages 30 - 44 years were seen to be more prone to develop gallstones than the females of any other age group. Conclusions: Overall surgical incidence for chotelithiasis was found to be 9.03% [95% CI, 8.6 - 9.4], with females being 3.3 times more prone to develop gallstones than the males