PMID- 31115196
OWN - NLM
STAT- MEDLINE
DCOM- 20190524
LR  - 20190524
IS  - 1565-4753 (Print)
IS  - 1565-4753 (Linking)
VI  - 16
IP  - Suppl 2
DP  - 2019 May
TI  - Pathogenesis of Growth Failure in Rasopathies.
PG  - 447-458
LID - 10.17458/per.vol16.2019.ad.pathogenesisrasopathies [doi]
AB  - The RASopathies are a group of developmental genetic syndromes that are caused by 
      germline mutations in genes encoding proteins of the Ras-Mitogen-Activated 
      Protein kinase (RAS-MAPK) pathway. RASopathies include Noonan Syndrome (NS), 
      Neurofibromatosis Type 1 (NF1), Noonan syndrome with multiple lentigines 
      (NSML/LEOPARD), Costello syndrome (CS), Cardio-facio-cutaneous syndrome (CFC), 
      capillary malformation-arteriovenous malformation syndrome (CM-AVM) and Legius 
      Syndrome. These syndromes have many overlapping features; however, the most 
      persistent feature common to all is the postnatal growth failure. The mechanism 
      of growth failure in Rasopathies is highly complex and there are many proposed 
      hypotheses including partial growth hormone insensitivity, growth hormone 
      deficiency, neurosecretory dysfunction of growth hormone secretion, delayed 
      puberty, poor feeding and skeletal abnormalities. Amongst these causes, the most 
      widely accepted is partial growth hormone insensitivity due to a post-receptor 
      signaling defect. Growth hormone therapy seems to be effective in improving 
      height velocity in these syndromes, although the long-term effects on final 
      height remain unproven. However, it is important to consider the potential risk 
      of tumors and cardiomyopathy before and during growth hormone therapy.
CI  - Copyright(c) of YS Medical Media ltd.
FAU - Aftab, Sommayya
AU  - Aftab S
AD  - Department of Paediatric Endocrinology, Great Ormond Street Hospital for 
      Children, London WC1N 3JH, UK.
FAU - Dattani, Mehul T
AU  - Dattani MT
AD  - Department of Paediatric Endocrinology, Great Ormond Street Hospital for 
      Children, London WC1N 3JH, Genetics and Genomic Medicine Programme, UCL GOS 
      Institute of Child Health, E-mail: m.dattani@ucl.ac.uk.
LA  - eng
PT  - Journal Article
PL  - Israel
TA  - Pediatr Endocrinol Rev
JT  - Pediatric endocrinology reviews : PER
JID - 101202124
RN  - EC 3.6.5.2 (ras Proteins)
SB  - IM
MH  - *Costello Syndrome
MH  - *Ectodermal Dysplasia
MH  - *Failure to Thrive
MH  - Humans
MH  - *Noonan Syndrome
MH  - ras Proteins
OTO - NOTNLM
OT  - Growth failure
OT  - Growth hormone deficiency
OT  - Growth hormone insensitivity
OT  - Neurosecretory dysfunction
OT  - Noonan Syndrome
OT  - RAS/MAPK pathway
OT  - Rasopathies
EDAT- 2019/05/23 06:00
MHDA- 2019/05/28 06:00
CRDT- 2019/05/23 06:00
PHST- 2019/05/23 06:00 [entrez]
PHST- 2019/05/23 06:00 [pubmed]
PHST- 2019/05/28 06:00 [medline]
AID - 10.17458/per.vol16.2019.ad.pathogenesisrasopathies [doi]
PST - ppublish
SO  - Pediatr Endocrinol Rev. 2019 May;16(Suppl 2):447-458. doi: 
      10.17458/per.vol16.2019.ad.pathogenesisrasopathies.