Short Stature Homeobox-Containing Haploinsufficiency in Seven Siblings with Short Stature
Deficiency of the short stature homeobox-containing (SHOX) gene is a frequent cause of short stature in children (2–15%). Here, we report 7 siblings with SHOX deficiency due to a point mutation in the SHOX gene. Index case was a 3-year-old male who presented for evaluation of short stature. His past...
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| Format: | Article |
| Language: | English |
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Wiley
2017-01-01
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| Series: | Case Reports in Endocrinology |
| Online Access: | http://dx.doi.org/10.1155/2017/7287351 |
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| author | Elizabeth S. Sandberg Ali S. Calikoglu Karen J. Loechner Lydia L. Snyder |
| author_facet | Elizabeth S. Sandberg Ali S. Calikoglu Karen J. Loechner Lydia L. Snyder |
| author_sort | Elizabeth S. Sandberg |
| collection | DOAJ |
| description | Deficiency of the short stature homeobox-containing (SHOX) gene is a frequent cause of short stature in children (2–15%). Here, we report 7 siblings with SHOX deficiency due to a point mutation in the SHOX gene. Index case was a 3-year-old male who presented for evaluation of short stature. His past medical history and birth history were unremarkable. Family history was notable for multiple individuals with short stature. Physical exam revealed short stature, with height standard deviation score (SDS) of −2.98, as well as arm span 3 cm less than his height. His laboratory workup was noncontributory for common etiologies of short stature. Due to significant familial short stature and shortened arm span, SHOX gene analysis was performed and revealed patient is heterozygous for a novel SHOX gene mutation at nucleotide position c.582. This mutation is predicted to cause termination of the SHOX protein at codon 194, effectively causing haploinsufficiency. Six out of nine other siblings were later found to also be heterozygous for the same mutation. Growth hormone was initiated in all seven siblings upon diagnosis and they have demonstrated improved height SDS. |
| format | Article |
| id | doaj-art-a6e9b62bc2ab475ab1b235e0d78631c9 |
| institution | Kabale University |
| issn | 2090-6501 2090-651X |
| language | English |
| publishDate | 2017-01-01 |
| publisher | Wiley |
| record_format | Article |
| series | Case Reports in Endocrinology |
| spelling | doaj-art-a6e9b62bc2ab475ab1b235e0d78631c92025-02-03T06:06:04ZengWileyCase Reports in Endocrinology2090-65012090-651X2017-01-01201710.1155/2017/72873517287351Short Stature Homeobox-Containing Haploinsufficiency in Seven Siblings with Short StatureElizabeth S. Sandberg0Ali S. Calikoglu1Karen J. Loechner2Lydia L. Snyder3Division of Endocrinology, Department of Pediatrics, University of North Carolina at Chapel Hill, Chapel Hill, NC, USADivision of Endocrinology, Department of Pediatrics, University of North Carolina at Chapel Hill, Chapel Hill, NC, USADivision of Pediatric Endocrinology, Department of Pediatrics, Children’s Healthcare of Atlanta, Atlanta, GA, USADivision of Pediatric Endocrinology, Department of Pediatrics, Nemours Children’s Health System, Jacksonville, FL, USADeficiency of the short stature homeobox-containing (SHOX) gene is a frequent cause of short stature in children (2–15%). Here, we report 7 siblings with SHOX deficiency due to a point mutation in the SHOX gene. Index case was a 3-year-old male who presented for evaluation of short stature. His past medical history and birth history were unremarkable. Family history was notable for multiple individuals with short stature. Physical exam revealed short stature, with height standard deviation score (SDS) of −2.98, as well as arm span 3 cm less than his height. His laboratory workup was noncontributory for common etiologies of short stature. Due to significant familial short stature and shortened arm span, SHOX gene analysis was performed and revealed patient is heterozygous for a novel SHOX gene mutation at nucleotide position c.582. This mutation is predicted to cause termination of the SHOX protein at codon 194, effectively causing haploinsufficiency. Six out of nine other siblings were later found to also be heterozygous for the same mutation. Growth hormone was initiated in all seven siblings upon diagnosis and they have demonstrated improved height SDS.http://dx.doi.org/10.1155/2017/7287351 |
| spellingShingle | Elizabeth S. Sandberg Ali S. Calikoglu Karen J. Loechner Lydia L. Snyder Short Stature Homeobox-Containing Haploinsufficiency in Seven Siblings with Short Stature Case Reports in Endocrinology |
| title | Short Stature Homeobox-Containing Haploinsufficiency in Seven Siblings with Short Stature |
| title_full | Short Stature Homeobox-Containing Haploinsufficiency in Seven Siblings with Short Stature |
| title_fullStr | Short Stature Homeobox-Containing Haploinsufficiency in Seven Siblings with Short Stature |
| title_full_unstemmed | Short Stature Homeobox-Containing Haploinsufficiency in Seven Siblings with Short Stature |
| title_short | Short Stature Homeobox-Containing Haploinsufficiency in Seven Siblings with Short Stature |
| title_sort | short stature homeobox containing haploinsufficiency in seven siblings with short stature |
| url | http://dx.doi.org/10.1155/2017/7287351 |
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