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Fig. 1 | BMC Medical Genetics

Fig. 1

From: Phenotype heterogeneity of congenital adrenal hyperplasia due to genetic mosaicism and concomitant nephrogenic diabetes insipidus in a sibling

Fig. 1

Sequence analysis of CYP21A2, CYP21A1P and AQP2 in patient and family members. a Homozygous CYP21A2 c.1069C >T (p.R357W) in exon 8 and c.1360C>T (p.P454S) in exon 10 are present in patient (S-1), her unaffected mother and sister S-2. Father is a heterozygous carrier and sister S-3 is normal. Mutations and corresponding CYP21A1P pseudogene sequences are indicated by an arrow. A pseudogene-specific primer pair was used to amplify 2.5-kb CYP21A1P gene containing exons 3–10 (F: 5’-CGGACCTGTCGTTGGTCTCTG-3′, R: 5’-GATTAAGCCTCAATCCTCTGCGGCA-3′). The resulting PCR products were re-amplified using the common CYP21A2 primer pairs for exon 8 (F: 5’-TTGCTGAGGGAGCGGCTGGAG-3′, R: 5’-GTTAGAGGCTGGCCAGGACCT-3′) and exon 10 (F: 5-TGAAAATGTGGTGGAGGCTGG-3′, R: 5’-CTCGCAGCACTGTGTTTACA-3′) followed by direct sequencing of PCR products. b A homozygous AQP2 c.439G>A (p.A147T) in exon 2 is shown in patient. Her parents are heterozygous carriers

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