Chromosomal Aberrations with Endocrine Relevance (Turner Syndrome, Klinefelter Syndrome, Prader-Willi Syndrome)

Haltrich, Irén

doi:10.1007/978-3-030-25905-1_20

Irén Haltrich³

Part of the book series: Experientia Supplementum ((EXS,volume 111))

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3 Citations

Abstract

Turner and Klinefelter syndromes are the most common chromosome abnormalities compatible with life. Prader-Willi syndrome is a complex multisystem imprinting disorder characterized by hypothalamic dysfunction, neurological implications, and psychiatric disturbances. All three conditions are associated with progressively increasing risk for metabolic and autoimmune morbidity and mortality. This chapter focuses on the endocrine aspects of these syndromes and recent discoveries based on epigenetics and gene expression studies that have broadened our understanding of their extensive phenotypic variability and heterogeneous comorbidities.

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Abbreviations

AKAP17A :: A-kinase anchoring protein 17A
AMOT :: Angiomotin
AS:: Angelman syndrome
ASD:: Autism spectrum disorder
ATP10C :: ATPase phospholipid transporting 10A
BMD:: Bone mineral density
BP1, BP2, BP3:: Breakpoint 1, 2, 3
CAI:: Central adrenal insufficiency
CD99 :: T-cell adhesion molecule
CNR1 :: Cannabinoid receptor 1
CSF2RA :: Colony-stimulating factor 2 receptor
CYFIP1 :: Cytoplasmic FMR1 interacting protein 1
DACT1 :: Dishevelled binding antagonist of beta catenin 1
DM:: Diabetes mellitus
DOCK1, 7 :: Dedicator of cytokinesis 1, 7
DVT:: Deep vein thrombosis
EIF2S3 :: Eukaryotic translation initiation factor 2 subunit gamma
FIGNL1 :: Fidgetin-like 1
FISH:: Fluorescence in situ hybridization
FSH:: Follicle-stimulating hormone
G3BP1 :: Stress granule assembly factor 1
GHD:: Growth hormone deficiency
GH:: Growth hormone
HERC2 :: HECT and RLD domain containing E3 ubiquitin protein ligase 2
i(X):: isoXq chromosome
IC:: Imprinting center
ID:: Imprinting defects
IL3RA :: Receptor for interleukin-3
IVF-ET:: In vitro fertilization-embryo transfer
JPX-JPX :: Transcript, XIST activator
KANK1 :: KN motif and ankyrin repeat domains 1
KDM6A :: Lysine demethylase 6A
KS:: Klinefelter syndrome
LGALS1 :: Lectin galactoside-binding soluble 1
LH:: Luteinizing hormone
M-GCTs:: Mediastinal germ cell tumors
MAGEL2 :: MAGE family member L2
matUPD:: Maternal uniparental disomy
MKRN3 :: Makorin ring finger protein 3
MS-MLPA:: Methylation-specific multiplex-ligation probe amplification
NDN :: Necdin, MAGE family member
NIPA1, 2 :: NIPA magnesium transporter 1, 2
NPAP1 :: Nuclear pore-associated protein 1
NSD1 :: Nuclear receptor-binding SET domain protein 1
PEX 10 :: Peroxisomal biogenesis factor 10
PIN4 :: Peptidylprolyl cis/trans isomerase, NIMA-interacting 4
POF:: Premature ovarian failure
PRKX :: Protein kinase X-linked
PWS:: Prader-Willi syndrome
R1FM :: Fragile X mental retardation 1
RPS4X :: Ribosomal protein S4 X-linked
RSPO1 :: R-Spondin 1
SCA:: Sex chromosomal aneuploidy
SHOX :: Short stature homeobox
SHROOM2 :: Shroom family member 2
SLC25A6 :: Solute carrier family 25 member 6
SMARCA1 :: SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily A, member 1
snoRNAs:: Small nucleolar RNAs
SNRPN :: Small nuclear ribonucleoprotein polypeptide N
SNURF :: SNRPN upstream reading frame
SOX3, 9 :: SRY-box 3, 9
TRT:: Testosterone replacement therapy
TSC22D3 :: TSC22 Domain family member 3
TS:: Turner syndrome
TUBGCP5 :: Tubulin gamma complex associated protein 5
TXLNG :: Taxilin gamma
UBE3A :: Ubiquitin protein ligase E3A
USP9X :: Ubiquitin-specific peptidase 9 X-linked
VGLL1 :: Vestigial-like family member 1
WNT4 :: Wnt family member 4
XIAP-X :: Linked inhibitor of apoptosis
XIST-X :: Inactive specific transcript
ZFYVE9 :: Zinc finger FYVE-type containing

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Faculty of Medicine, 2nd Department of Pediatrics, Semmelweis University, Budapest, Hungary
Irén Haltrich

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2nd Department of Internal Medicine, Faculty of Medicine, Semmelweis University, MTA-SE Molecular Medicine Research Group, Hungarian Academy of Sciences and Semmelweis University, Budapest, Hungary
Peter Igaz
Department of Laboratory Medicine, Faculty of Medicine, Semmelweis University, “Lendület” Hereditary Endocrine Tumors Research Group, Hungarian Academy of Sciences and Semmelweis University, Department of Molecular Genetics, National Institute of Oncology, Budapest, Hungary
Attila Patócs

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Haltrich, I. (2019). Chromosomal Aberrations with Endocrine Relevance (Turner Syndrome, Klinefelter Syndrome, Prader-Willi Syndrome). In: Igaz, P., Patócs, A. (eds) Genetics of Endocrine Diseases and Syndromes. Experientia Supplementum, vol 111. Springer, Cham. https://doi.org/10.1007/978-3-030-25905-1_20

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