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HDR (Hypoparathyroidism, Deafness, Renal dysplasia) syndrome associated to GATA3 gene duplication

HDR (Hypoparathyroidism, Deafness, Renal dysplasia) syndrome associated to GATA3 gene duplication 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 (1–3). 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: 8.8–10.8 mg/dl) was diagnosed on the third day of life. Clinical examination disclosed high-arched and sparse eyebrows, synophrys, hypertelorism, upslanting palpebral fissures, http://www.deepdyve.com/assets/images/DeepDyve-Logo-lg.png Clinical Genetics Wiley

HDR (Hypoparathyroidism, Deafness, Renal dysplasia) syndrome associated to GATA3 gene duplication

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References (18)

Publisher
Wiley
Copyright
© 2009 John Wiley & Sons A/S
ISSN
0009-9163
eISSN
1399-0004
DOI
10.1111/j.1399-0004.2009.01170.x
pmid
19659764
Publisher site
See Article on Publisher Site

Abstract

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 (1–3). 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: 8.8–10.8 mg/dl) was diagnosed on the third day of life. Clinical examination disclosed high-arched and sparse eyebrows, synophrys, hypertelorism, upslanting palpebral fissures,

Journal

Clinical GeneticsWiley

Published: Jul 1, 2009

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