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“Pheochromocytoma”, Victor McKusick, Mendelian Inheritance in Man, 1966.

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Here I present: Pheochromocytoma”, Victor McKusick, Mendelian Inheritance in Man’, 1966.

INTRODUCTION.

Paraganglioma are neuroendocrine neoplasms that develop in various body sites: when this type of tumor is found in the adrenal gland, it is referred to as a Pheochromocytoma (the topic of the blog post). Too much adrenaline hormone released from the adrenal glands.

There is evidence that pheochromocytoma type-4 (PPGL4) is caused by heterozygous mutation in the SDHB gene (enzyme commission number EC# 1.3.5.1 succinate dehydrogenase) on cytogenetic location 1p36.13 and genomic coordinates 1:17,018,722-17,054,032 . Ten (10) genes besides the  SDBH gene in the 1p36.13 cytogenetic location are listed BELOW.

Coordinate  Symbol  Genomic Name.
1:16,872,583  TRE-TTC3-1 tRNA glutamic acid (anticodon TTC) 3-1
1:16,914,085  CROCC  Ciliary rootlet coiled-coil protein
1:16,974,502  MFAP2 Microfibrillar-associated protein-2
1:16,985,958  ATP13A2 ATPase 13A2
1:17,018,722  SDHB Succinate dehydrogenase complex, iron-sulfur unit-B
1:17,066,761  PADI2 Peptidylarginine deiminase, type II
1:17,205,128  PADI1 Peptidylarginine deiminase, type I
1:17,249,098  PADI3 Peptidylarginine deiminase, type III
1:17,308,197  PADI4 Peptidylarginine deiminase, type IV
1:17,372,196  PADI6 Peptidylarginine deiminase, type VI

 

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