Intra-familial phenotypic variability in a Moroccan family with hearing loss and palmoplantar keratoderma (PPK).
Mutations in the GJB2 gene encoding connexin 26 are the main cause of hereditary hearing impairment. These mutations generate mainly autosomal recessive and rarely autosomal dominant deafness. Dominant mutations in GJB2 can be responsible for isolated deafness as well as syndromic hearing loss associated with various skin abnormalities. Until now few papers discuss dominant mutations in the GJB2 gene. In this work we report a rare case about a Moroccan family with a compound heterozygous mutation (the dominant p.R75Q and the recessive c.35delG alleles) in the GJB2 gene with intra-familial phenotypic variability. This study reinforces the involvement of p.R75Q mutation of GJB2 in syndromic deafness associated with dermatological diseases the palmoplantar keratoderma.
Institut Pasteur, Laboratoire de Génétique Moléculaire Humaine, 1, place Louis Pasteur, 20360 Casablanca, Morocco; Laboratoire des sciences biologiques, filière technique de santé, Institution Supérieure des Professions Infirmières et Techniques de Santé, Casablanca, Marocco.
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Bousfiha
Institut Pasteur, Laboratoire de Génétique Moléculaire Humaine, 1, place Louis Pasteur, 20360 Casablanca, Morocco.
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Bakhchane
Institut Pasteur, Laboratoire de Génétique Moléculaire Humaine, 1, place Louis Pasteur, 20360 Casablanca, Morocco.
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Elrharchi
Laboratoire de Génétique et Patholgie Moléculaire, Faculté de médecine de Casablanca, Casablanca, Morocco.
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Dehbi
Laboratoire de Biochimie et Biologie Moléculaire, Université Hassan II, Faculté des Sciences Aïn Chock, Casablanca, Morocco.
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Kabine
Laboratoire de Génétique et Patholgie Moléculaire, Faculté de médecine de Casablanca, Casablanca, Morocco.
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Nadifi
Institut Pasteur, Laboratoire de Génétique Moléculaire Humaine, 1, place Louis Pasteur, 20360 Casablanca, Morocco.
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Charoute
Institut Pasteur, Laboratoire de Génétique Moléculaire Humaine, 1, place Louis Pasteur, 20360 Casablanca, Morocco. Electronic address: hamid.barakat@pasteur.ma.
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Barakat
D000483:Alleles; D019943:Amino Acid Substitution; D001483:Base Sequence; D002648:Child; D000072259:Connexin 26; D017630:Connexins / Q000172:deficiency* / Q000235:genetics; D004200:Diseases in Twins / Q000235:genetics; D005260:Female; D005799:Genes, Dominant; D005808:Genes, Recessive; D006319:Hearing Loss, Sensorineural / Q000235:genetics*; D006579:Heterozygote; D006801:Humans; D007645:Keratoderma, Palmoplantar / Q000235:genetics*; D008297:Male; D009018:Morocco; D020125:Mutation, Missense; D010375:Pedigree; D010641:Phenotype; D017354:Point Mutation; D017384:Sequence Deletion
D017630:Connexins; C000607042:GJB2 protein, human; D000072259:Connexin 26
GJB2; Hearing loss; Morocco; Mutation; Palmoplantar keratoderma