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By using homozygosity mapping in a consanguineous Pakistani family, we detected linkage of nonsyndromic hearing loss to a 7.6 Mb region on chromosome 3q13.31-q21.1 within the previously reported DFNB42 locus. Subsequent candidate gene sequencing identified a homozygous nonsense mutation (c.1135G>T [p.Glu379X]) in ILDR1 as the cause of hearing impairment. By(More)
Recessive splice site and nonsense mutations of PCDH15, encoding protocadherin 15, are known to cause deafness and retinitis pigmentosa in Usher syndrome type 1F (USH1F). Here we report that non-syndromic recessive hearing loss (DFNB23) is caused by missense mutations of PCDH15. This suggests a genotype-phenotype correlation in which hypomorphic alleles(More)
Nonalcoholic steatohepatitis (NASH) associated cirrhosis is an increasing indication for liver transplant (LT). The aim of this study was to determine outcome and poor predictive factors after LT for NASH cirrhosis. We analyzed patients undergoing LT from 1997 to 2008 at a single center. NASH was diagnosed on histopathology. LT recipients with hepatitis C,(More)
BACKGROUND Lung cancer is one of the most prevalent malignancies in the world and both incidence and mortality rates are continuing to rise in Pakistan. However, epidemiological studies to identify common lung cancer determinants in the Pakistani population have been limited. MATERIALS AND METHODS In this retrospective case-control study, 400 cases and(More)
BACKGROUND Complex abdominal wall defects can present a significant challenge to the reconstructive surgeon. In 2003, acellular dermal matrix (ADM) was introduced as an alternative to synthetic materials with suggestions that it has improved capacity to integrate with surrounding tissues with less inclination towards infection, erosion, extrusion, adhesion(More)
PURPOSE To determine the cause of Leber congenital amaurosis (LCA) and developmental cataracts in a consanguineous Pakistani family. METHODS The diagnosis was established in all affected individuals of a Pakistani LCA family by medical history, funduscopy, and standard ERG. We performed genome-wide linkage analysis for mapping the disease locus in this(More)
BACKGROUND In 2006, a survey performed by Morrison et al analyzed the experience of aesthetic surgery training from the perspective of residents and their program directors in plastic surgery programs across the United States. OBJECTIVES The authors conducted a survey to follow-up on the Morrison results three years after publication, to assess the(More)
Progressive myoclonus epilepsies (PMEs) are a group of rare, inherited disorders manifesting with action myoclonus, tonic-clonic seizures and ataxia. We sequenced the exomes of 84 unrelated individuals with PME of unknown cause and molecularly solved 26 cases (31%). Remarkably, a recurrent de novo mutation, c.959G>A (p.Arg320His), in KCNC1 was identified as(More)
BACKGROUND Clinical experience with surgical decompression of specific peripheral nerves in the head and neck for the relief of migraine headache symptoms has proven to be effective in most patients. Some patients, however, continue to have residual symptoms after these procedures. In an effort to better understand potential etiologies for failure of(More)