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Pre- and postnatal ...
Pre- and postnatal growth failure with microcephaly due to two novel heterozygous IGF1R mutations and response to growth hormone treatment
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- Gkourogianni, Alexandra (författare)
- Karolinska Institutet
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- Andrade, Anenisia C. (författare)
- Division of Pediatric Endocrinology, Department of Women's and Children's Health, Karolinska Institute and University Hospital, Stockholm, Sweden; Center for Molecular Medicine, Karolinska Institute and University Hospital, Stockholm, Sweden
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- Jonsson, Björn-Anders (författare)
- Umeå universitet,Medicinsk och klinisk genetik
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- Segerlund, Emma (författare)
- Department of Pediatrics, Sunderby Hospital, Sunderby, Sweden
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- Werner-Sperker, Antje (författare)
- Department of Pediatrics, Sunderby Hospital, Sunderby, Sweden
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- Horemuzova, Eva (författare)
- Karolinska Institutet
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- Dahlgren, Jovanna, 1964 (författare)
- Gothenburg University,Göteborgs universitet,Institutionen för kliniska vetenskaper, Avdelningen för pediatrik,Institute of Clinical Sciences, Department of Pediatrics
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- Burstedt, Magnus (författare)
- Umeå universitet,Medicinsk och klinisk genetik
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- Nilsson, Ola, 1970- (författare)
- Karolinska Institutet,Örebro universitet,Institutionen för medicinska vetenskaper,Division of Pediatric Endocrinology, Department of Women's and Children's Health, Karolinska Institute and University Hospital, Stockholm, Sweden; Center for Molecular Medicine, Karolinska Institute and University Hospital, Stockholm, Sweden; University Hospital, Örebro, Sweden
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(creator_code:org_t)
- 2020-03-06
- 2020
- Engelska.
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Ingår i: Acta Paediatrica. - : Wiley-Blackwell Publishing Inc.. - 0803-5253 .- 1651-2227. ; 109:10, s. 2067-2074
- Relaterad länk:
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https://doi.org/10.1...
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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
- AIM: To explore the phenotype and response to growth hormone in patients with heterozygous-mutations in the insulin-like growth factor I receptor gene (IGF1R).METHODS: Children with short-stature, microcephaly, born SGA combined with biochemical sign of IGF-I insensitivity were analyzed for IGF1R mutations or deletions using Sanger sequencing and Multiple ligation dependent probe amplification analysis.RESULTS: In two families, a novel heterozygous non-synonymous missense IGF1R variant was identified. In family 1, c.3364G>T, p.(Gly1122Cys) was found in the proband and co-segregated perfectly with the phenotype in three generations. In family 2, a de novo variant c.3530G>A, p.(Arg1177His) was detected. Both variants were rare, not present in the GnomAD database. Three individuals carrying IGF1R mutations have received rhGH treatment. The average gain in height SDS during treatment was 0.42 (range: 0.26 - 0.60) and 0.64 (range: 0.32 - 0.86) after 1 and 2 years of treatment, respectively.CONCLUSION: Our study presents two heterozygous IGF1R mutations causing pre- and postnatal growth failure and microcephaly and also indicates that individuals with heterozygous IGF1R mutations can respond to rhGH treatment. The findings highlight that sequencing of the IGF1R should be considered in children with microcephaly and short stature due to pre- and postnatal growth failure.
Ämnesord
- MEDICIN OCH HÄLSOVETENSKAP -- Medicinska och farmaceutiska grundvetenskaper -- Medicinsk genetik (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Basic Medicine -- Medical Genetics (hsv//eng)
- MEDICIN OCH HÄLSOVETENSKAP -- Klinisk medicin -- Pediatrik (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Clinical Medicine -- Pediatrics (hsv//eng)
Nyckelord
- IGF1R
- GH treatment
- IGF-I
- IGFBP-3
- Idiopathic short stature
- GH treatment
- idiopathic short stature
- IGF-I
- IGF1R
- IGFBP-3
Publikations- och innehållstyp
- ref (ämneskategori)
- art (ämneskategori)
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Till lärosätets databas
- Av författaren/redakt...
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Gkourogianni, Al ...
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Andrade, Anenisi ...
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Jonsson, Björn-A ...
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Segerlund, Emma
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Werner-Sperker, ...
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Horemuzova, Eva
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Dahlgren, Jovann ...
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Burstedt, Magnus
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Nilsson, Ola, 19 ...
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- Om ämnet
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- MEDICIN OCH HÄLSOVETENSKAP
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MEDICIN OCH HÄLS ...
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och Medicinska och f ...
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och Medicinsk geneti ...
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- MEDICIN OCH HÄLSOVETENSKAP
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MEDICIN OCH HÄLS ...
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och Klinisk medicin
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och Pediatrik
- Artiklar i publikationen
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Acta Paediatrica
- Av lärosätet
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Örebro universitet
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Umeå universitet
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Karolinska Institutet
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Göteborgs universitet