Molecular characterization in a case of isolated growth hormone deficiency and further prenatal diagnosis of an unborn sibling.
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Date
2013-10
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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.
Description
Keywords
Antenatal diagnosis, GH1 deletion, isolated growth hormone deficiency
Citation
Nadar 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.