Congenital Disorders

This chapter is devoted to specific diseases presenting usually in early infancy or childhood as a result of disruption in the normal development of the cornea and its associated structures. These disorders may develop due to one or a combination of various genetic, infectious, inflammatory, toxic, metabolic, traumatic, or mechanical processes and may occur at any time during tissue induction, differentiation, and maturation. Adjacent structures (anterior chamber angle, iris, and lens) can be impacted too. Congenital limbal stem cell deficiency is usually associated with aniridia and ectodermal dysplasia. Aniridia can occur in a sporadic or familial form. The familial inheritance pattern of aniridia is predominantly autosomal dominant. The aniridia phenotype varies depending on the mutation present. Interesting ocular congenital disorders associated with Neurofibromatosis, Axenfeld-Rieger syndrome, Icthyosis are shown in this chapter. It presents a rare case of porphyria-associated sclerocorneal melting with before and after treatment photos.

Identification and Functional Characterization of a Novel Nonsense Variant in ARR3 in a Southern Chinese Family With High Myopia

ARR3 has been associated with X-linked, female-limited, high myopia. However, using exome sequencing (ES), we identified the first high myopia case with hemizygous ARR3-related mutation in a male patient in a Southern Chinese family. This novel truncated mutation (ARR3: c.569C>G, p.S190*) co-segregated with the disease phenotype in affected family members and demonstrated that high myopia caused by ARR3 is not X-linked, female-limited, where a complicated X-linked inheritance pattern may exist. Thus, our case expanded the variant spectrum in ARR3 and provided additional information for genetic counseling, prenatal testing, and diagnosis. Moreover, we characterized the nonsense-mediated decay of the ARR3 mutant mRNA and discussed the possible underlying pathogenic mechanisms.

Correspondence of Austronesian Phonemes in Jambi Malay Language: A Comparative Study of Seberang Jambi Sub dialect and Bungo Malay Sub dialect

This research is aimed at: 1) describing the sound correspondence set of two sub dialects; 2) describing kinds of proto phonemes pattern in Jambi Malay sub dialect and Bungo Malay sub dialect. There are three steps conducted in the research, they are collecting data, analyzing data, and presenting the result of analysis. In collecting data, the writer used observational method by applying the elicitation technique, which is continued by several techniques, i. e facing conversation, taking note, and recording technique. In analyzing data, the writer also used qualitative and quantitative approaches. Qualitative approach is used in order to show the sound correspondence between two sub dialects. Then, the comparative method is used to compare and determine the inheritance pattern toward two sub dialects.The result of analysis are: 1) there are two of sound correspondences rules that mostly found in ultima and penultima position. namel r ~ R /- η # /and ə ~ ə /# b – In addition, inherited linearly, inherited with changes, and linearly with lost. The linearly inherited can be seen from some vocal of protolanguage, /*i/, /*a/, /*ə/ also consonant /*b/, /*l/, /*m/, /*p/, /*g/, /*s/, /*η/, /*k/, /*h/. Furthermore, dealing with Proto Austronesia language, it is also found that some proto phonemes are showing the alteration, namely innovation.

Primary Hyperparathyroidism Superimposed on a Pre-existing Familial Hypocalciuric Hypercalcemia Diagnosis

Familial hypocalciuric hypercalcemia is a rare clinical condition of persistently elevated serum calcium and reduced urinary calcium levels with an autosomal dominance inheritance pattern to the three out of four large types of this condition known. This rare condition goes largely undiagnosed as patients are largely asymptomatic and where symptoms are present, other causes of hypercalcemia are considered first. Hyperparathyroidism, super-imposing on FHH, is an even rarer occurrence. We present the case of an adult male with an initial provisional assessment of FHH, which was later confirmed with a genetic study. He went on to develop hyperparathyroidism (with evident enlarged parathyroid glands on Sestamibi parathyroid scan done, and an eventual histologic diagnosis of parathyroid adenoma after surgery). It remains to be established if this is an incidental occurrence or if there is a causal relationship between FHH and an onward development of parathyroid hypertrophy or adenoma(ta).

Familial Melanoma and Susceptibility Genes: A Review of the Most Common Clinical and Dermoscopic Phenotypic Aspect, Associated Malignancies and Practical Tips for Management

A family history of melanoma greatly increases the risk of developing cutaneous melanoma, a highly aggressive skin cancer whose incidence has been steadily increasing worldwide. Familial melanomas account for about 10% of all malignant melanomas and display an inheritance pattern consistent with the presence of pathogenic germline mutations, among which those involving CDKN2A are the best characterized. In recent years, a growing number of genes, such as MC1R, MITF, CDK4, POT1, TERT, ACD, TERF2IP, and BAP1, have been implicated in familial melanoma. The fact that individuals harboring these germline mutations along with their close blood relatives have a higher risk of developing multiple primary melanomas as well as other internal organ malignancies, especially pancreatic cancer, makes cascade genetic testing and surveillance of these families of the utmost importance. Unfortunately, due to a polygenic inheritance mechanism involving multiple low-risk alleles, genetic modifiers, and environmental factors, it is still very difficult to predict the presence of these mutations. It is, however, known that germline mutation carriers can sometimes develop specific clinical traits, such as high atypical nevus counts and specific dermoscopic features, which could theoretically help clinicians predict the presence of these mutations in prone families. In this review, we provide a comprehensive overview of the high- and intermediate-penetrance genes primarily linked to familial melanoma, highlighting their most frequently associated non-cutaneous malignancies and clinical/dermoscopic phenotypes.

Defensible Stalking Practice the Grounded Continuously Silhouette up-to-the-minute Wireless Assessing in Tactful Linkages

Abstract— This paper proposes a Peripheral Silhouette Chasing Technique (PSCT) that lessens vigor feasting for stalking movable boards in wireless stratagem nets in footings of detecting and message vigor ingesting. PSCT preserves get-up-and-go by hire only a least quantity of feeler bulges contribute in announcement and accomplish detecting for objective pursuing. The trifling succeeding extent founded on the vehicular kinematics. The showing of objective’s kinematics agrees for clipping available share of the stalking part that cannot be instinctively visited by the movable objective within reserved time. So, sends the stalking expanse material to only the instrument bulges within negligible stalking expanse and wakes them up. Equated to the inheritance pattern which uses sphere-based pursuing expanse, our suggested structure uses not as much of integer of antennae for stalking in cooperation epistle and distinguishing deprived of objective gone. From side to side recreation, us show that PSCT leave behind the round-constructed arrangement with near 70% vitality exchangeable beneath convinced epitome circumstances. Index Term — Stratagem Linkage, Objective Stalking, Vigor, Stalking Expanse, Peripatetic Objective, Automobile, Kinematics, Round, Recognizing, Decree, Optimization.

Genetic analysis of father-daughter incest using multifaceted STR markers and study of inheritance pattern of alleles

Background: Two cases involving father-daughter incest, a rare report in the Indian population, have been analyzed in the current study. STR markers on both autosomal and sex chromosomes were employed to expound the cases. Objective: To confirm the identity of the fetus as a product of father-daughter incest and to study the inheritance pattern of alleles in such cases. Results: In both cases, the aborted fetus was found to be the product of an incestuous father-daughter relationship. The probability of paternity as well as maternity was found to be >99.9999% in both cases. Analysis of other paternity and forensic parameters also substantiated the inclusion of the alleged individuals. Father-daughter incest had a tremendous effect on the genome as evidenced from the dramatical decrease in unrelated alleles between father/child [16.66% (Case 1), 20% (Case 2)] and mother/child [26.66% (Case 1), 21.66% (Case 2)]. Genetic evidence also suggested an increased biallelic match i.e., 26.66% (Case 1) and 33.33% (Case 2) between mother and fetus which are at par/ above the normal siblings’ values i.e., 26.66%. Conclusion: A significant increase in the percentage of homozygous alleles (53.33% in both cases) was observed in the product of father-daughter incest. Both daughters share the same X chromosome from the father, which also suggested the case to be of father-daughter incest. Similarly, the same Y-STR profile between the male fetus and alleged father confirmed the correct pattern of inherit1ance of the Y chromosome in this case.

Breeding of Cav2.3 deficient mice reveals Mendelian inheritance in contrast to complex inheritance in Cav3.2 null mutant breeding

High voltage-activated Cav2.3 R-type Ca2+ channels and low voltage-activated Cav3.2 T-type Ca2+ channels were reported to be involved in numerous physiological and pathophysiological processes. Many of these findings are based on studies in Cav2.3 and Cav3.2 deficient mice. Recently, it has been proposed that inbreeding of Cav2.3 and Cav3.2 deficient mice exhibits significant deviation from Mendelian inheritance and might be an indication for potential prenatal lethality in these lines. In our study, we analyzed 926 offspring from Cav3.2 breedings and 1142 offspring from Cav2.3 breedings. Our results demonstrate that breeding of Cav2.3 deficient mice shows typical Mendelian inheritance and that there is no indication of prenatal lethality. In contrast, Cav3.2 breeding exhibits a complex inheritance pattern. It might be speculated that the differences in inheritance, particularly for Cav2.3 breeding, are related to other factors, such as genetic specificities of the mutant lines, compensatory mechanisms and altered sperm activity.