Abstract Background Ectodermal dysplasia syndactyly syndrome 1 (EDSS1) is a rare hereditary disorder characterized by defects in teeth, hair, and nails in association with a fusion of the digits. Genetically, the disease phenotypes are caused by homozygous and compound heterozygous variants in NECTIN4 gene. Objective The main objective of the study was to identify the pathogenic sequence variant(s) for family screening and identification of carriers. Methods In the present study, the authors have investigated a large consanguineous family of Pakistani origin segregating autosomal recessive EDSS1. All the coding exons of the NECTIN4 gene were directly sequenced using gene-specific primers. Results The affected individuals presented the classical EDSS1 clinical features including sparse hair, hypoplastic nails with thick flat discolored nail plates, peg-shaped, conical, and widely spaced teeth with enamel hypoplasia, proximal cutaneous syndactyly of fingers and toes. Sequence analysis of the coding region of the NECTIN4 identified a novel nonsense variant [c.163C>T; p.(Arg55*)] in exon-2 of the gene. Computational analysis of protein structure revealed that the variant induced premature termination at Arg55 located in Ig-like V-loop region leading to loss of Ig-C2 type domains and transmembrane region, and most likely Nectin-4 function will be lost. Study limitation Gene expression studies are absent that would have strengthened the findings of computational analysis. Conclusion The present study expanded the phenotypic and mutation spectrum of the NECTIN4 gene. Further, the study would assist in carrier testing and prenatal diagnosis of the affected families. EDSS (EDSS1 hair digits Genetically NECTIN s variant(s carriers genespecific specific primers plates pegshaped, pegshaped peg shaped, shaped peg-shaped conical hypoplasia toes c.163C&gtT c163CgtT cCgtT c.163C&gt T c 163C gt C [c.163C>T p.Arg55* pArg55 pArg p. Arg55* p Arg p.(Arg55*) exon2 exon 2 exon- Arg5 Iglike Ig like Vloop V loop IgC2 IgC C2 Ig-C Nectin4 Nectin 4 Nectin- lost Further families (EDSS gtT CgtT c163Cgt cCgt p.Arg55 pArg5 p.(Arg55* Cgt p.Arg5 p.(Arg55 p.Arg p.(Arg5 p.(Arg

Abstract The aim of this research work was to evaluate the nutritional worth of some wild edible medicinal plants of District Harnai, Balochistan. Five wild edible medicinal plants (WEMPs) viz., Ficus carica L., Morus alba L., M. nigra L., Olea ferruginea Royle and Pistacia khinjuk Stocks were collected from study area. Proximate and mineral composition of leaf and fruit samples were quantified. Proximate composition revealed that leaf samples contained significant amount of dry matter, ash and protein content in O. ferruginea and fat content and Crude fiber in F.carica, Total carbohydrates and Organic matter in P. khinjuk comparatively. Further data highlighted fruit samples as rich source of organic matter, fat content and total carbohydrate (F.carica), Dry matter (P. khinjuk), Ash and protein content (M. alba) and Crude fiber (M. nigra). Similarly, mineral composition revealed a wide variability of macro and micronutrients in leave and fruit samples of selected WEMPs. The overall results obtained in this study have showed that F. carica and M. alba. may serve as good source of many important macro-nutrients viz., N, Ca, K, Mg, S and P. Whereas, M. alba followed by M. nigra may be considered as an excellent source of essential micro nutrients including Al, B, Cr, Fe, Mn, Ni, Sr and Zn. Each selected wild plant manifested variable levels of mineral and proximate compositions representing that all the investigated WEMPs are rich source of nutrients that can fulfil the needs of nutrition while M. alba, M. nigra and F. carica are rich and easily available sources of essential nutrients for human diet. Harnai Balochistan (WEMPs viz viz. L L. M area quantified O Fcarica F F.carica P comparatively , (F.carica) (P khinjuk, khinjuk) (M nigra. . nigra) Similarly macronutrients N Ca K Mg Whereas Al B Cr Fe Mn Ni Zn diet (F.carica

Abstract Split-hand/split-foot malformation (SHFM), also known as ectrodactyly is a rare genetic disorder. It is a clinically and genetically heterogeneous group of limb malformations characterized by absence/hypoplasia and/or median cleft of hands and/or feet. To date, seven genes underlying SHFM have been identified. This study described four consanguineous families (A-D) segregating SHFM in an autosomal recessive manner. Linkage in the families was established to chromosome 12p11.1–q13.13 harboring WNT10B gene. Sequence analysis identified a novel homozygous nonsense variant (p.Gln154*) in exon 4 of the WNT10B gene in two families (A and B). In the other two families (C and D), a previously reported variant (c.300_306dupAGGGCGG; p.Leu103Argfs*53) was detected. This study further expands the spectrum of the sequence variants reported in the WNT10B gene, which result in the split hand/foot malformation.