Molecular insight into CREBBP and TANGO2 variants causing intellectual disability.

Background: Intellectual disability (ID) can be associated with different syndromes such as Rubinstein-Taybi syndrome (RSTS) and can also be related to conditions such as metabolic encephalomyopathic crises, recurrent,with rhabdomyolysis, cardiac arrhythmias and neurodegeneration. Rare congenital RSTS1 (OMIM 180849) is characterized by mental and growth retardation, significant and duplicated distal phalanges of thumbs and halluces, facial dysmorphisms, and an elevated risk of malignancies. Microdeletions and point mutations in the CREB-binding protein (CREBBP) gene, located at 16p13.

Novel mutations in and cause retinitis pigmentosa in Pakistani families.

Aim: To investigate the genetic basis of autosomal recessive retinitis pigmentosa (arRP) in two consanguineous/ endogamous Pakistani families.

Methods: Whole exome sequencing (WES) was performed on genomic DNA samples of patients with arRP to identify disease causing mutations. Sanger sequencing was performed to confirm familial segregation of identified mutations, and potential pathogenicity was determined by predictions of the mutations' functions.

USH2A gene variants cause Keratoconus and Usher syndrome phenotypes in Pakistani families.

Background: Retinitis pigmentosa (RP) is the most common inherited retinal dystrophy, affecting approximately 1 in 4000 individuals worldwide. The most common form of syndromic RP is Usher syndrome (USH) accounting for approximately 20-30 % of RP cases. Mutations in the USH2A gene cause a significant proportion of recessive non-syndromic RP and USH type II (USH2).

Comparison of Psoralen ultraviolet A (PUVA) photochemotherapy plus topical corticosteroids with PUVA plus bland emollients in the treatment of psoriasis.

Background: Psoralen Ultraviolet A (PUVA) therapy is a well-established treatment of psoriasis. The objective of the study was to compare the clinical improvement in psoriasis with PUVA photochemotherapy + topical corticosteroids and PUVA + bland emollients.

Methods: Forty patients with chronic plaque type of psoriasis were divided into two equal groups each having 20 patients.

Comparative efficacy of psoralen - UVA photochemotherapy versus narrow band UVB phototherapy in the treatment of psoriasis.

Objective: To compare the clinical improvement in psoriasis with psoralen - UVA photochemotherapy versus narrow band UVB phototherapy alone.

Design: An interventional quasi- experimental study.

Place And Duration Of Study: Dermatology Department, Nishtar Hospital, Multan, from May 2002 to June 2003.