TY  - CHAP
M1  - Book, Section
TI  - Hereditary Paragangliomas of the Head and Neck
A1  - Devilee, Peter
A1  - van der Mey, Andel G.L.
A1  - Cornelisse, Cees J.
A2  - Valle, David L.
A2  - Antonarakis, Stylianos
A2  - Ballabio, Andrea
A2  - Beaudet, Arthur L.
A2  - Mitchell, Grant A.
PY  - 2019
T2  - The Online Metabolic and Molecular Bases of Inherited Disease
AB  - Paragangliomas  are  mostly  benign,  slow  growing  tumors  in  the  head  and  neck  region  originating  from  the  parasympathetic  paraganglion  system.Between  10  and  50  percent  of  the  cases  are  caused  by  an  inherited  gene-defect.  The  inheritance  pattern  seen  in  most  families  displays  a  parent-of-origin  effect.  In  these  families,  children  of  affected  mothers  never  develop  the  disease;  only  paternal  transmission  of  the  gene-defect  confers  susceptibility.Mutations  in  SDHD  gene  are  the  major  cause  of  this  inherited  tumor.  SDHD  is  a  subunit  of  the  mitochondrial  respiratory  chain  complex  II.  Two  families  have  been  identified  in  which  the  disease  mutation  resides  in  other  genes,  namely  in  SDHC  in  a  family  of  German  origin,  and  in  an  as  yet  unidentified  gene  (PGL2)  in  a  Dutch  family.  Mutations  in  SDHB  have  been  found  in  a  small  number  of  families  with  adrenal  pheochromocytoma,  with  or  without  head  and  neck  paraganglioma.  SDHB  and  SDHC  are  two  other  subunits  of  the  mitochondrial  complex  II.Tumors  developing  in  carriers  of  an  SDHC  or  SDHD  mutation  have  invariably  lost  the  wild-type  allele,  suggesting  that  both  genes  function  as  a  tumor-suppressor  gene  in  parasympathetic  paraganglion  tissues.SDHC  and  SDHD  are  the  first  tumor  suppressor  genes  whose  normal  cellular  function  are  exerted  in  the  mitochondria.  
SN  - 
PB  - McGraw-Hill Education
CY  - New York, NY
Y2  - 2024/04/19
UR  - ommbid.mhmedical.com/content.aspx?aid=1181415312
ER  -