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Early activating so...
Early activating somatic PIK3CA mutations promote ectopic muscle development and upper limb overgrowth
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- Frisk, Sofia (författare)
- Karolinska Institutet
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- Taylan, Fulya (författare)
- Karolinska Institutet
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- Blaszczyk, Izabela (författare)
- Umea Univ Hosp, Dept Surg & Perioperat Sci, Hand & Plast Surg, Umea, Sweden
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- Nennesmo, Inger (författare)
- Karolinska Institutet
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- Annerén, Göran, 1945- (författare)
- Uppsala universitet,Science for Life Laboratory, SciLifeLab,Medicinsk genetik och genomik
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- Herm, Bettina (författare)
- Ostersunds Hosp, Child & Adolescent Habilitat Ctr, Ostersund, Sweden
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- Stattin, Evalena (författare)
- Uppsala universitet,Medicinsk genetik och genomik,Science for Life Laboratory, SciLifeLab
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- Zachariadis, Vasilios (författare)
- Karolinska Institutet
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- Lindstrand, Anna (författare)
- Karolinska Institutet
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- Tesi, Bianca (författare)
- Karolinska Institutet
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- Laurell, Tobias (författare)
- Karolinska Institutet
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- Nordgren, Ann (författare)
- Karolinska Institutet
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(creator_code:org_t)
- 2019-05-09
- 2019
- Engelska.
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Ingår i: Clinical Genetics. - : WILEY. - 0009-9163 .- 1399-0004. ; 96:2, s. 118-125
- Relaterad länk:
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https://doi.org/10.1...
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https://uu.diva-port... (primary) (Raw object)
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https://onlinelibrar...
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https://urn.kb.se/re...
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https://doi.org/10.1...
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http://kipublication...
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Abstract
Ämnesord
Stäng
- PIK3CA-related overgrowth spectrum is a group of rare genetic disorders with asymmetric overgrowth caused by somatic mosaic PIK3CA mutations. Here, we report clinical data and molecular findings from two patients with congenital muscular upper limb overgrowth and aberrant anatomy. During debulking surgery, numerous ectopic muscles were found in the upper limbs of the patients. DNA sequencing, followed by digital polymerase chain reaction, was performed on DNA extracted from biopsies from hypertrophic ectopic muscles and identified the somatic mosaic PIK3CA hotspot mutations c.3140A > G, p.(His1047Arg) and c.1624G > A, p.(Glu542Lys) in a male (patient 1) and a female (patient 2) patient, respectively. Patient 1 had four ectopic muscles and unilateral isolated muscular overgrowth while patient 2 had 13 ectopic muscles and bilateral isolated muscular overgrowth of both upper limbs, indicating that her mutation occurred at early pre-somitic mesoderm state. The finding of PIK3CA mutations in ectopic muscles highlights the importance of PIK3CA in cell fate in early human embryonic development. Moreover, our findings provide evidence that the disease phenotype depends on the timing of PIK3CA mutagenesis during embryogenesis and confirm the diagnostic entity PIK3CA-related muscular overgrowth with ectopic accessory muscles.
Ämnesord
- MEDICIN OCH HÄLSOVETENSKAP -- Klinisk medicin -- Klinisk laboratoriemedicin (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Clinical Medicine -- Clinical Laboratory Medicine (hsv//eng)
Nyckelord
- accessory
- cell fate
- ectopic
- muscle hypertrophy
- muscular hypertrophy
- PIK3CA
- PROS
Publikations- och innehållstyp
- ref (ämneskategori)
- art (ämneskategori)
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Till lärosätets databas
- Av författaren/redakt...
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Frisk, Sofia
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Taylan, Fulya
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Blaszczyk, Izabe ...
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Nennesmo, Inger
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Annerén, Göran, ...
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Herm, Bettina
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visa fler...
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Stattin, Evalena
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Zachariadis, Vas ...
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Lindstrand, Anna
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Tesi, Bianca
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Laurell, Tobias
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Nordgren, Ann
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- MEDICIN OCH HÄLSOVETENSKAP
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och Klinisk laborato ...
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Clinical Genetic ...
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Uppsala universitet
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Karolinska Institutet