Deafness with Sporadic Goiter: Pendred's Syndrome

A whole-exome analysis of non-syndromic hearing loss patients from India reveals a wide spectrum of known and novel mutations

“…3, the Sankey plot provides a graphical representation of the genotype-phenotype correlation between the variations in the identi ed genes and the associated phenotypes. Some of the mutations identi ed in our patient cohort showed phenotypic overlap with other syndromes, such as different subtypes of Usher syndrome (ADGRV1, CIB2, MYO7A, PCDH15, and SCN10A) as reported in ORPHANET, Pendred syndrome (SLC26A4) [13], Wolfram syndrome (WFS1) [14], Chudley-McCullough Syndrome (GPSM2) [6], primary ciliary dyskinesia (DHAH5) [15], [16], and MYH9-related disease with congenital thrombocytopenia [17].…”

"Bound" Complement in the Skin of Patients With Chronic Discoid Lupus Erythematosus and Systemic Lupus Erythematosus

“…The absence of iodotyrosines in the blood and urine and the normal ratio of B.E.131I to n.B.131I indicate that some at least of the known metabolic defects of sporadic goitrous cretinism are unlikely to be present in our endemic deafmutes. Nevertheless, in the absence of direct tissue analysis, the evidence presented here as well as that of Bastenie et al (1962) (Batsakis and Nishiyama 1962). The thyroid develops first.…”

Newborn Genetic Screening for Hearing Impairment: A Preliminary Study at a Tertiary Center

“…Likewise, to screen GJB2 mutations in Ashkenazi Jews, c.167delT should be included [45]. Leading to Pendred syndrome, the most common form of syndromic deafness [46], as well as to DFNB4, a common form of non-syndromic deafness with enlarged vestibular aqueduct (EVA), mutations of SLC26A4 might be the second most frequent cause of hereditary hearing loss worldwide. Common SLC26A4 mutations also differ across populations.…”