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Letter to the Editor HDR (Hypoparathyroidism, Deafness, Renal dysplasia) syndrome associated to GATA3 gene duplication To the Editor: GATA3 haploinsufficiency due to loss-of-function mutations or deletions is the only known pathogenic mechanism causing HDR (Hypoparathyroidism, sensorineural Deafness, Renal dysplasia) triad (OMIM #146255) (1, 2). Mutations in regulatory sequences and genetic heterogeneity could explain the small subset of HDR syndrome patients negative to GATA3 screening (1â3). We report on a girl presenting HDR triad associated with psychomotor delay, facial dysmorphisms, bilateral cleft lip and palate, heart defect and abnormal fingers and toes, resulting from a complex rearrangement of 10p15p14 region. She was the firstborn of healthy non-consanguineous parents. Pregnancy was complicated by growth retardation. A prenatal ultrasound scan at 20 weeks detected unilateral renal hypoplasia. Amniocentesis disclosed a 46,XX karyotype. She was born by cesarean section at 36 weeks of gestation. Birth weight was 2490 g (3rd centile), length 49 cm (50th centile), and head circumference 32.5 cm (,3rd centile). Apgar scores were 9 and 10 at 1 and 5 min. Mild hypocalcemia (7.5 mg/dl; normal range: 8.8â10.8 mg/dl) was diagnosed on the third day of life. Clinical examination disclosed high-arched and sparse eyebrows, synophrys, hypertelorism, upslanting palpebral fissures,
Clinical Genetics – Wiley
Published: Jul 1, 2009
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