MITF p.Arg217Thr Variant Identified in a Han Chinese Family with Tietz/Waardenburg Syndrome

Waardenburg syndrome (WS) is a group of rare genetic disorders characterized by hearing loss, changes in coloring of hair, skin, and eyes, and alterations in the shape of the face. Tietz syndrome is another rare disorder which presented similar phenotypes to WS. Patients with Tietz/Waardenburg syndrome often present with pale blue eyes, albino skin, and distinctive hair coloring, such as a patch of white hair or hair that prematurely turns gray. At present, more than six candidate genes are responsible for four types of Waardenburg syndrome and Tietz syndrome. This study is aimed at identifying the pathogenic gene variants in a three-generation Han Chinese family with hearing loss, blue-gray iris, albino skin, and white hair. In order to discover the molecular genetic lesion underlying the disease phenotype, whole exome sequencing in the proband, with Tietz/Waardenburg syndrome phenotypes, of a Han Chinese family from HeBei, China, was conducted. A novel heterozygous c.650G>C/p.Arg217Thr variant in melanocyte inducing transcription factor (MITF) was identified. Sanger sequencing further validated that this mutation existed in three affected individuals and absent in healthy family members. Bioinformatics analysis predicted that this mutation was deleterious. Our study further identified the genetic lesion of the family. Simultaneously, our study may also contribute to genetic counseling, embryonic screening of in vitro fertilized embryos, and prenatal genetic diagnosis of patients with Tietz/Waardenburg syndrome, especially for the proband, unmarried and unpregnant women, to reduce familial transmission in this Han Chinese family.

FUE – A Permanent Treatment for White Hair Removal?

Background: There are multiple treatment modalities for white hair removal but the results are non-satisfactory for the patients as well as the practitioners. Follicle Unit Extraction can be used as a onetime and permanent option for the removal of unwanted white hair. Methods: White beard removal was done from 3 patients using FUE technique under aseptic conditions. Results: A complete removal of unwanted white hair was seen in all the patients. Follow up was done for 4 months and there was no case of re-growth. Conclusion: Within the limitation of the small number of patients, it can be concluded that FUE can be considered a permanent and one-time treatment for the removal of unwanted white hair.

Coat Color Roan Shows Association with KIT Variants and No Evidence of Lethality in Icelandic Horses

Roan (Rn) horses show a typical seasonal change of color. Their body is covered with colored and white hair. We performed a descriptive statistical analysis of breeding records of Icelandic horses to challenge the hypothesis of roan being lethal in utero under homozygous condition. The roan to non-roan ratio of foals from roan × roan matings revealed homozygous roan Icelandic horses to be viable. Even though roan is known to be inherited in a dominant mode and epistatic to other coat colors, the causative mutation is still unknown. Nevertheless, an association between roan phenotype and the KIT gene was shown for different horse breeds. In the present study, we identified KIT variants by Sanger sequencing, and show that KIT is also associated with roan in the Icelandic horse breed.

The Son of Man–Messiah David

This chapter talks about how Palestinian Judaism is different from the situation in the Babylonian Talmud or the Bavli, the main document of Judaism from the region between the Euphrates and Tigris that belonged to the Sasanian Empire and was still referred to by Jews as Babylonia. It discusses the Bavli, in which it provides a central and well-known interpretation of Daniel 7:9 that is put into the mouth of no one less than Rabbi Aqiva. The interpretation appears in two versions with different contextualizations, but the essence of both is identical. The chapter provides two examples of ostensibly contradictory bible verses that are reconciled in a Bavli-typical argumentation. Similar to the Mekhilta, the first example refers to two different manifestations of God. The second example refers to an apparent contradiction in Daniel 7:9 where God is described as an old man with white hair.