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17p13.3 microduplication including CRK leads to overgrowth and elevated growth factors: A case report.

ABSTRACT: 17p13.3 microduplications classified as class I duplications involving YWHAE but not PAFAH1B1 (formerly LIS1) and class II duplications which extend to involve PAFAH1B1, are associated with diverse phenotypes including intellectual disability and structural brain malformations. We report a girl with an approximately 1.58 Mb apparently terminal gain of 17p13.3, which contains more than 20 genes including the YWHAE and CRK genes (OMIM: 164762). She had increased growth factors accompanied by pathologic tall stature. In addition to these, she developed central precocious puberty at 7 years old. In individuals with class I 17p13.3 microduplications including CRK, we recommend biochemical evaluation of the growth hormone axis. Providers caring for these patients should be aware of their possible risk for the development of central precocious puberty.

SUBMITTER: Henry RK

PROVIDER: S-EPMC5064849 | biostudies-literature | 2016 Oct

REPOSITORIES: biostudies-literature

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17p13.3 microduplication including CRK leads to overgrowth and elevated growth factors: A case report.

Henry Rohan K RK Astbury Caroline C Stratakis Constantine A CA Hickey Scott E SE

European journal of medical genetics 20160912 10

17p13.3 microduplications classified as class I duplications involving YWHAE but not PAFAH1B1 (formerly LIS1) and class II duplications which extend to involve PAFAH1B1, are associated with diverse phenotypes including intellectual disability and structural brain malformations. We report a girl with an approximately 1.58 Mb apparently terminal gain of 17p13.3, which contains more than 20 genes including the YWHAE and CRK genes (OMIM: 164762). She had increased growth factors accompanied by patho ...[more]

PMID: 27633569

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