Molecular characterization in a case of isolated growth hormone deficiency and further prenatal diagnosis of an unborn sibling.

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dc.contributor.authorNadar, Ruchi
dc.contributor.authorKhatod, Kavita
dc.contributor.authorPhadke, Nikhil
dc.contributor.authorDatar, Chaitanya
dc.contributor.authorVaidya, Sujata
dc.contributor.authorKhadilkar, Anuradha
dc.contributor.authorKhadilkar, Vaman
dc.date.accessioned2015-03-05T10:35:00Z
dc.date.available2015-03-05T10:35:00Z
dc.date.issued2013-10
dc.description.abstractFamilial 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.en_US
dc.identifier.citationNadar Ruchi, Khatod Kavita, Phadke Nikhil, Datar Chaitanya, Vaidya Sujata, Khadilkar Anuradha, Khadilkar Vaman. Molecular characterization in a case of isolated growth hormone deficiency and further prenatal diagnosis of an unborn sibling. Indian Journal of Human Genetics. 2013 Oct-Dec ;19 (4): 475-478.en_US
dc.identifier.urihttps://imsear.searo.who.int/handle/123456789/156618
dc.language.isoenen_US
dc.source.urihttps://www.ijhg.com/article.asp?issn=0971-6866;year=2013;volume=19;issue=4;spage=475;epage=478;aulast=Nadaren_US
dc.subjectAntenatal diagnosisen_US
dc.subjectGH1 deletionen_US
dc.subjectisolated growth hormone deficiencyen_US
dc.subject.meshFetus --diagnosis
dc.subject.meshFetus --genetics
dc.subject.meshGene Deletion
dc.subject.meshGrowth Disorders --genetics
dc.subject.meshHuman Growth Hormone --deficiency
dc.subject.meshHuman Growth Hormone --genetics
dc.subject.meshHumans
dc.subject.meshInfant
dc.subject.meshMale
dc.subject.meshPolymerase Chain Reaction
dc.subject.meshPrenatal Diagnosis --methods
dc.subject.meshSiblings
dc.titleMolecular characterization in a case of isolated growth hormone deficiency and further prenatal diagnosis of an unborn sibling.en_US
dc.typeArticleen_US
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