According to ACMG criteria, variant is classified as having uncertain clinical significance. Functional prediction algorithms showed deleterious impact (dbNSFP v4.1, FATHMM, SIFT) or benign (CADD, PolyPhen-2, Mutation Assessor). The affected amino acid position is moderately conserved (positive scores in PhyloP: 1.364 and phastCons: 0.398). This variant is reported in population databases with 0.0000655 MAF (GnomAD v3, dbSNP rs761596254). In the mother, the variant was not present. An ultra-rare variant c.839C>T (p.Pro280Leu) in NKX2-5 gene (NM_004387.4) was identified in both affected children and an unaffected father. The samples were subjected to whole-exome sequencing (WES) (Illumina, TruSeq Exome Enrichment Kit, San Diego, CA 92121, USA). None of the family members presented with congenital heart defect. The aim of the study was to reveal genetic factors responsible for thyroid maldevelopment in two siblings with THA. Thyroid hemiagenesis (THA) is an inborn absence of one thyroid lobe of largely unknown etiopathogenesis. To view the papers in pdf format, click on the "PDF Full-text" link, and use the free Adobe Reader to open them. PDF is the official format for papers published in both, html and pdf forms.You may sign up for e-mail alerts to receive table of contents of newly released issues.Issues are regarded as officially published after their release is announced to the table of contents alert mailing list.Almost all cranial tissues, including the intracranial and extracranial structures of the head and face, are innervated by trigeminal afferents. In turn, third-order neurons in the thalamus are activated, and nociception reaches the somatosensory cortex as well as other cortical areas. Nociceptive transmission originates from the trigeminal ganglion to the brain stem and subsequently second-order sensitive neurons, including the trigeminal spinal nucleus. The nociceptive innervation of the intracranial vascular system and meninges consists of unmyelinated (C fibers) and thinly myelinated (Ad fibers) axons containing vasoactive peptides, such as calcitonin gene-related peptide (CGRP), substance P, and neurokinin A. Neurogenic inflammation is one of the factors implicated in the pathogenesis of several neurological diseases, such as migraine.
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