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Fig. 2 | BMC Medical Genetics

Fig. 2

From: Connexin 26 (GJB2) mutation in an Argentinean patient with keratitis-ichthyosis-deafness (KID) syndrome: a case report

Fig. 2

Genetic testing. a Chromatogram of the patient’s GJB2 sequence shows an G → A transition (c.G148A), predicting a of Asn by Asp substitution in codon 50 (p.Asp50Asn). Upper diagram shows the wild type sequence and lower image the mutated version in the patient. b Patient’s family pedigree. c Schematic diagram of connexin 26 protein in the plasma membrane. Red circle marks the position of detected mutation which is localized in the E1 extracellular domain. IC: intracellular domain, TM: transmembrane domain, EC: extracellular domain

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