GJB6 mutation A88V for hidrotic ectodermal dysplasia in a Chinese family

Novel clinical features associated with Clouston syndrome

“…The c.263C>T (A88V) mutation in GJB6 was first identified in two unrelated French families and was subsequently reported in families from different ethnic populations . The alanine 88 is conserved between human and mouse Cx30, and the introduction of a highly hydrophobic residue (valine, V), in the transmembrane M2 domain, would be expected to change the polarity of connexin channels and intercellular communication or induce Cx30 apoptosis through an endoplasmic reticulum‐independent mechanism …”

A recurrent mutation of GJB6 in a big Chinese family with Hidrotic ectodermal dysplasia

“…Cx30 encoded by GJB6 is an important member in connexin family which is highly expressed in epithelial, especially the palms of the hands and soles of the feet, hair follicles, nail beds and mesenchymal structures of the inner ear [ 2 , 7 , 8 ]. The intact size and domain of Cx30 are essential to maintain the transport of potassium ions and certain small molecules at gap junctions between cells [ 3 , 5 , 9 ]. In our case, the p.A88V mutation of GJB6 introduced a highly hydrophobic residue in the transmembrane M2 domain of Cx30, which change the polarity of connexin channels and affect intercellular communication.…”

“…Different populations may have distinct most frequent variant in GJB6. Notably, p.G11R and p.A88V mutations in GJB6 were recurrently reported in Chinese Han population [ 3 , 5 ]. Whether HED-related mutations in GJB6 have its own spectrum in Chinese Han population needs further observation and investigation [ 2 , 5 ].…”

“…Notably, p.G11R and p.A88V mutations in GJB6 were recurrently reported in Chinese Han population [ 3 , 5 ]. Whether HED-related mutations in GJB6 have its own spectrum in Chinese Han population needs further observation and investigation [ 2 , 5 ]. To the best of our knowledge, p. A88V mutation was only reported in three Chinese families and we reported another family here [ 5 , 12 , 13 ].…”

“…The main clinical manifestations of HED are nail dystrophy, alopecia and palmoplantar hyperkeratosis with normal sweat glands and teeth. Besides, eye abnormalities, sensorineural hearing loss, oral leukoplakia may also happen in some sporadic cases [ 1 , 2 , 5 ]. Previous studies have identified that mutations in the gap junction beta 6 ( GJB6 ) gene encoding connexin30 (Cx30) protein was the main cause of HED.…”