SYNDROMIC AND NON-SYNDROMIC DEAFNESS, MOLECULAR ASPECTS OF PENDRED SYNDROME AND ITS REPORTED MUTATIONS

Authors

  • Shahzad Shaukat
  • Zareen Fatima
  • Uruj Zehra
  • Ahmed Bilal Waqar

Abstract

Deafness means partial or complete hearing impairment and is one of the most prevalent sensory defects in humans. It can be due to genetic or environmental causes or a combination of both and may be Syndromic (associated with additional clinical features) or nonsyndromic (no other recognizable abnormal associated phenotype). The overall impact of hearing impairment is greatly influenced by the severity of hearing defect and by the age of onset. If defect is severe and presents in early childhood, it has dramatic effect on speech acquisition and thereby cognitive and psychosocial development. The mutations shown in the paper results in the conformational changes of protein and influence the phenotype of the affected individuals. For recessive cases of deafness it is possible to reduce the incidence of deafness by carrier screening in the families with multiple affected individuals and genetic counselling. Pendred Syndrome can be characterized by the triad composed of familial goitre, abnormal perchlorate discharge and congenital deafness.

References

Kalatzis V, Pettit C. The fundamental medical impacts of recent progress in research on hereditary hearing loss. Hum Mol Genet 1998;7:1589-97.

Bergstrom L, Hemenway WG, Downs MP. A high risk registry to find congenital deafness. Otolaryngol Clin N Am 1971;4:369-99.

Kelsell DP, Dunlop J, Stevens HP, Lench NJ, Liang JN, Parry G, et al. Connexin 26 mutations in hereditary non-syndromic sensorineural deafness. Nature 1997;387:80-3.

Liu XZ, Walsh J, Mburu P, Kendrick-Jones J, Cope MJTV, Steel KP, et al. Mutations in the myosin VIIA gene cause non- syndromic recessive deafness. Nat Genet 1997;16:188-90.

Wang A, Liang Y, Fridell RA, Probst FJ, Wilcox ER, Touchman JW, et al. Association of unconventional myosin MY015 mutations with human nonsyndromic clearness DFNB3. Science 1998;280:1447-51.

Li XC, Everett LA, Lalwani AK, Desmukh D, Friedman TB, Green ED, et al. A mutation in PDS causes non-syndromic recessive deafness. Nat Genet 1998;18:215-7.

Chaib H, Place C, Salem N, Dode C, Chardenoux S, Weissenbach J, et al. Mapping of DFNB12, a gene for a non- syndromal autosomal recessive deafness, to chromosome 10q21-22. Hum Mol Genet 1996;5:1061-4.

BonneTamir B, De Stefano AL, Briggs CE, Adair R, Franklyn B, Weiss S, et al. Linkage of congenital recessive deafness (gene DFNB10) to chromosome 21q22.3. Am J Hum Genet 1996;58:1254-9.

Chaib H, Place C, Salem N, Chardenoux S, Vincent C, Weissenbach J, et al. A gene responsible for a sensorineural nonsyndromic recessive deafness maps to chromosome 2p22-23. Hum Mol Genet 1996;5:155-8.

Mustapha M, Weil D, Chardenoux S, Elias S, El-Zir E, Beckmann JS, et al. An alpha-tectorin gene defect causes a newly identified autosomal recessive form of sensorineural pre-lingual non-syndromic deafness, DFNB21. Hum Mol Genet 1999;8:409-12.

Wilcox ER, Burton QL, Naz S, Riazuddin S, Smith TN, Ploplis B, et al. Mutations in the gene encoding tight junction claudin-14 cause autosomal recessive deafness DFNB29. Cell 2001;12 (1):104-65.

Pendred V. Deaf-mutism and goitre. Lancet 1896;11:532.

Chen H and Green WH. Medical Genetics Handbook. 2nd ed. (USA): Raven Publishers; 1988

Newton CR, Graham A, Heptinstall LE, Powell SJ, Summers C, Kalsheker N, et al. Analysis of any point mutation in DNA: the amplification refractory mutation system (ARMS). Nucl Acids Res 1989;17:2503-16.

Marazita ML, Ploughman LM, Rawlings B, Remington E, Arnos KS, Nance WE. Genetic Epidemiological studies of early onset deafness in US School-age population. Am J Med Genet 1993;46:486-91.

Van Camp G and Smith RJH. Hereditary Hearing Loss Homepage. http://dnalab-www.uia.ac.be/dnalab/hhh.

Fraser GR. The Causes of Profound Deafness in Childhood. 1st ed. (USA): Johns Hopkins Univ. Press;1976.

Reardon W, Coffey R, Chowdhury T, Grossman A, Jan H, Button K, et al. Prevalence, age of onset, and natural history of thyroid disease in Pendred syndrome. J Med Genet 1997;36:595-8.

Coyle B, Reardon W, Herbrick JA, Tsui LC, Gausden E, Lee J, et al. Molecular analysis of the PDS gene in Pendred syndrome (sensorineural hearing loss and goitre). Hum Mol Genet 1998;7:1105-12.

Cremers CWRJ, Bolder C, Admiraal RJC, Everett LA, Joosten FBM, Van Hauwe P, et al. Progressive sensorineural hearing loss and a widened vestibular aqueduct in Pendred syndrome. Arch Otolaryng Head Neck Surg 1998;124:501-5.

Sheffield VC, Kraiem Z, Beck JC, Nishimura D, Stone EM, Salameh M, et al. Pendred syndrome maps to chromosome 7q21-34 and is caused by an intrinsic defect in thyroid iodine organification. Nat Genet 1996;12:424-6.

Everett LA, Glaser B, Beck JC, Idol JR, Buchs A, Heyman M, et al. Pendred syndrome is caused by mutations in a putative sulphate transporter gene (PDS). Nat Genet 1997;17:411-22.

Van Hauwe P, Everett LA, Coucke P, Scott DA, Kraft ML, Ris-Stalpers C, et al. Two frequent missense mutations in Pendred syndrome. Hum Mol Genet 1998;7:1099-104.

Bogazzi F, Raggi F, Ultimieri F, Campomori A, Cosci C, Berrettini S, et al. A novel mutation in the pendrin gene associated with Pendred's syndrome. Clin Endocrinol 2000;52:279-85.

Petit C. Genes responsible for Human Hereditary Deafness: symphony of a thousand. Nat Genet 1996;14:385-91.

Masmoudi S, Charfedine I, Hmani M, Grati M, Ghorbel AM, Elgaeid-Boulila A, et al. Pendred Syndrome: Phenotypic variability in two families carrying the same PDS missense mutation. Am J Med Genet 2000;90:38-44.

Shami SA, Schmitt LH, Bittles AH. Consanguinity related prenatal and postnatal mortality of the population of seven Pakistani Punjab cities. J Med Genet 1989;26:267-71.

Ott J. Analysis of Human Genetic Linkage. 1st ed. (USA): Johns Hopkins University Press;1985

Terwillger JD, and Ott J. Hand Book of human genetic linkage. 2nd ed. (USA): John Hopkins University Press;1994.

Cave WT, and Dunn JT. Studies on thyroidal defect in an atypical form of Pendred Syndrome. J Clin Endocrinol Metab 1973;41:590-9.

Batsakis JG, and Nishiyama RH. Deafness with sporadic goitre: Pendred's syndrome. Arch Otolaryng 1962;76:401-6.

Phelps PD, Coffey RA, Trembath RC, Luxon LM, Grossman AB, Britton KE, et al. Radiological malformations of the ear in Pendred Syndrome. Clin Radiol 1998;53:268-73.

Kabakkaya Y, Bakan E, Yigitoglus MR, Goke G, Dogan M. Pendred Syndrome. Ann Otol Rhinol Laryngol 1993;102:285-8.

Mondini C. Anatoma surdi nedi sectro DeBononiensi Scientiarum et Artium. Instituto Anque Academic Commentarie 1791;7:28-9.

Parpella MM, el-Fiky FM. Mondini’s deafness. Arch Otolaryngol 1972;95:134-40.

Parpella MM. Mondini’s deafness: A review of histopathology. Ann Otol Rhinol Laryngol Suppl 1980;89:1-10.

Schuknecht HF. Mondini’s dysplasia; A Clinical and Pathological study. An Otol Rhinaol Laryngol Suppl 1980;89:1-23.

Scott DA, Wang R, Kreman TM, Sheffield VC, Karniski LP. The Pendred syndrome gene encodes a chloride-iodide transport protein. Nat Genet 1999;21:440-3.

Scott D, Karaniski LP. Human Pendrin expressed in Xenopus laevis oocyte mediates chloride/formate exchange. Am J Physiol 2000;278:C207-11.

Royaux IE, Suzuki K, Mori A, Katoh R, Everett LA, Kohn LD, et al. Pendrin, The protein encoded by the Pendred Syndrome gene (PDS), is an apical porter of iodide in the thyroid and is regulated by thyroglobulin in FTRL-5 cells. Endocrinology 2000;141:839-45.

Usami S, Abe S, Weston MD, Shinkawa H, Van Camp G, Kimberling WJ. Non-syndromic hearing loss associated with enlarged vestibular aqueduct is caused by PDS mutations. Hum Genet 1999;104:188-92.

Downloads