We present the first pachyonychia congenita (PC) to involve all ectodermal derivatives and the first recessive KRT17-related PC in total seven members of two consanguineous Pakistani families. This ...atypical PC is characterized by an unusual combination of pachyonychia, plantar keratoderma, folliculitis, alopecia, sparse eyebrows, dental anomalies and variable acanthosis nigricans of neck, dry skin, palmoplantar hyperhidrosis, recurrent blisters on soles and/or arms, rough sparse hair on scalp and keratosis pilaris. By exome sequencing we detected homozygous KRT17 c.281G>A (p.(Arg94His)) in affected individuals, and linkage mapping indicated a single locus. Heterozygous variants in KRT17 cause PC2 (PC-K17) with main characteristics of pachyonychia, subungual keratosis, palmoplantar keratoderma, hyperhidrosis, oral leukokeratosis and epidermal cysts, or steatocystoma multiplex, both with dominant inheritance. The causative variant has been reported in heterozygous state in a family afflicted with severe steatocystoma multiplex and in a sporadic PC2 case, and thus we also define a third phenotype related to the variant. Both exome sequencing and linkage mapping demonstrated recessive inheritance whereas Sanger sequencing indicated heterozygosity for the causal variant, reiterating caution for simple targeted sequencing for genetic testing. Testing parents for variants found in sibs could uncover recessive inheritance also in other KRT genes.
Tooth agenesis (TA) is the developmental absence of one or more permanent teeth. We report on 10 members of a Pakistani family afflicted with TA with variable associated features inherited in ...autosomal dominant fashion with full penetrance. The malformation is bilateral in the majority of cases, and hallmark feature is the absence of lateral and central incisors and canines whereas first and second premolars are involved less often. Affected individuals also have pronounced variable features associated with TA such as diastema between central incisors, overgrown labial frenum, peg-shaped lower incisors, delayed exfoliation, over-erupted upper incisors and malocclusion but have no other signs of ectodermal dysplasia. Through linkage analysis coupled with exome sequencing, we identified novel nonsense variant EDAR c.1302G>A, p.(Trp434*). The variant is deduced to create a premature termination codon that leads to the deletion of the 15 C-terminal residues. Heterozygous EDAR variants most commonly cause hypohydrotic ectodermal dysplasia, but recently one nonsense and 10 missense variants have been reported in nonsyndromic TA, some with few mild features of hypohydrotic ectodermal dysplasia. The phenotype in the family we present, the largest with EDAR-related TA reported to date, is highly variable and without any signs of ectodermal dysplasia.
•In 10 related individuals, novel EDAR p.Trp434* with autosomal dominant inheritance.•Tooth agenesis, mostly of incisors and canines.•Diastema between central incisors, overgrown frenum, peg-shaped lower incisors.•Delayed exfoliation, over-erupted upper incisors, malocclusion.•No sign of ectodermal dysplasia.
An analysis of sugarcane production with reference to extension services in Union Council Malakandher-Peshawar Pervaiz, U. (The University of Agriculture, Peshawar (Pakistan). Dept. of Agricultural Extension Education and Communication); Khan, F. (The University of Agriculture, Peshawar (Pakistan). Dept. of Agricultural Extension Education and Communication); Jan, D. (The University of Agriculture, Peshawar (Pakistan). Dept. of Agricultural Economics) ...
Sarhad journal of agriculture,
03/2013, Letnik:
29, Številka:
1
Journal Article
Recenzirano
Keeping in view the importance of sugarcane in Khyber Pakhtunkwa, Pakistan the present study was initiated in December 2008. The study was based on primary as well as secondary data. The universe of ...study consisted of Union Council Malakandher of District Peshawar, Pakistan. Total sample size was 80 for this study. Majority of the respondents i.e. 91% consisted of small size of landholding and poor finical resources, 90% of sample respondents were illiterate and used traditional method of cultivation. Extension services were criticized and their role in adoption and diffusion technology was negligible. Area under sugarcane cultivation was decreased in the study area, and yield of sugarcane decreased by 31% during the last five years. The main factors responsible for low sugarcane production were poor finical condition of the farmers, lack of technical know how, unavailability and high prices of chemical fertilizers and high yielding varieties in local market, and in-efficient and in-effective role of extension staff. Small farmers should be encouraged to invest in agriculture, through the provision of soft loans and technical assistance.
