MED-NERD
Etiology and Epidemiology of Pendred Syndrome
Etiology:
Pendrin/SLC26A4 Protein is a multifunctional anion exchanger that has affinity to multiple anions such as chloride. A mutation in the Pendrin Gene (PDS/SLC26A4) on chromosome 7 that encodes Pendrin/SLC26A4 Protein leads to Pendred syndrome. It is expressed in different organs such as thyroid, inner ear, kidney, and bronchial epithelial cells. It is an autosomal recessive disorder (A child to be affected has to receive two mutated PDS genes from parents).
The parents are carriers of the mutated genes therefore they do not present with disorders or symptoms related to Pendred syndrome. Genetic testing may be useful in parents suspected to be carriers of the mutated genes and family history of early hearing loss or family history of hearing loss and goiter, is an indicator for possibility of Pendred syndrome. However, family history may be absent so genetic testing of blood sample can be done.
Epidemiology:
Pendred syndrome represents about 10% of the congenital deafness causes and is considered the most common syndrome of deafness. Its prevalence is estimated between 7.5 and 10 per 100,000 individuals. Inheritance risk from heterozygous parents is 25%.Reference:
(1)Garabet Diramerian L, Ejaz S. Pendred Syndrome. 2022 Jun 27. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2022 Jan–.
https://www.ncbi.nlm.nih.gov/books/NBK549839/
(2)Smith RJH, Iwasa Y, Schaefer AM. Pendred Syndrome / Nonsyndromic Enlarged Vestibular Aqueduct. 1998 Sep 28 [updated 2020 Jun 18]. In: Adam MP, Everman DB, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2023.
https://www.ncbi.nlm.nih.gov/books/NBK1467/
(3)Gettelfinger JD, Dahl JP. Syndromic Hearing Loss: A Brief Review of Common Presentations and Genetics. J Pediatr Genet. 2018 Mar;7(1):1-8.
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5809162/
(4)Biggs K, Lovett A, Metcalfe C, Muzaffar J, Monksfield P, Bance M. Outcomes of Cochlear Implantation in Patients with Pendred syndrome: A Systematic Review and Narrative Synthesis. J Int Adv Otol. 2020 Dec;16(3):432-442.
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7901456/
(5)Pendred Syndrome,NIH national institute on deafness Nd other communication disorders
https://www.nidcd.nih.gov/health/pendred-syndrome
Comments
Post a Comment