Molecular characterization in a case of isolated growth hormone deficiency and further prenatal diagnosis of an unborn sibling.
Indian J Hum Genet
; 2013 Oct-Dec ;19 (4): 475-478
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| ID: sea-156618
ABSTRACT
Familial isolated growth hormone deficiency (GHD) type 1 is characterized by an autosomal recessive pattern of inheritance with varying degrees of phenotypic severity. We report a proband, with isolated GHD (IGHD) with very early growth arrest and undetectable levels of GH. Homozygous complete deletion of the GH1 gene was identified by real‑time/quantitative polymerase chain reaction (RT/q‑PCR) and confirmed by an independent molecular genetic method; the multiplex ligation‑dependent probe amplification (MLPA) technique. Prenatal diagnosis was offered for the subsequent pregnancy in the mother of our proband. Identical heterozygous deletion of the GH1 gene was detected in both parents. The fetus had a similar homozygous deletion of the GH1 gene. We thus report a unique case with a confirmed mutation in GH1 gene in the proband followed by prenatal detection of the same mutation in the amniotic fluid which to our knowledge hitherto has not been documented from India.
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IMSEAR
Assunto principal:
Diagnóstico Pré-Natal
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Humanos
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Masculino
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Reação em Cadeia da Polimerase
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Deleção de Genes
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Hormônio do Crescimento Humano
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Irmãos
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Feto
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Transtornos do Crescimento
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Lactente
Tipo de estudo:
Diagnostic_studies
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Prognostic_studies
Idioma:
En
Revista:
Indian J Hum Genet
Ano de publicação:
2013
Tipo de documento:
Article