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Two further patients with the 1q24 deletion syndrome expand the phenotype: A possible role for the miR199-214 cluster in the skeletal features of the condition

Two further patients with the 1q24 deletion syndrome expand the phenotype: A possible role for the miR199-214 cluster in the skeletal features of the condition
Two further patients with the 1q24 deletion syndrome expand the phenotype: A possible role for the miR199-214 cluster in the skeletal features of the condition
Submicroscopic deletions within chromosome 1q24q25 are associated with a syndromic phenotype of short stature, brachydactyly, learning difficulties, and facial dysmorphism. The critical region for the deletion phenotype has previously been narrowed to a 1.9?Mb segment containing 13 genes. We describe two further patients with 1q24 microdeletions and the skeletal phenotype, the first of whom has normal intellect, whereas the second has only mild learning impairment. The deletion in the first patient is very small and further narrows the critical interval for the striking skeletal aspects of this condition to a region containing only Dynamin 3 (DNM3) and two microRNAs that are harbored within intron 14 of this gene: miR199 and miR214. Mouse studies raise the possibility that these microRNAs may be implicated in the short stature and skeletal abnormalities of this microdeletion condition. The deletion in the second patient spans the previously reported critical region and indicates that the cognitive impairment may not always be as severe as previous reports suggest.
genetics, microdeletion, 1q24, dynamin-3, DNM3, dysmorphology, syndrome, skeletal, phenotype, miR199
1552-4825
3153-3160
Ashraf, Tazeen
5ff012d6-264c-4444-8e69-ec9747e66833
Collinson, Morag N.
e1313be8-5065-4e8a-a4df-ccf5bf29d466
Fairhurst, Joanna
2812ed8e-8598-49bc-8919-52fecd2c0fef
Wang, Rubin
73b1893f-625b-409e-981e-8d283e227b57
Wilson, Louise C.
9ddd87d2-0e18-4ca8-b8a9-28ae1dfcc0ab
Foulds, Nicola
5e153e9f-caae-45f5-b6f0-943bd567558e
Ashraf, Tazeen
5ff012d6-264c-4444-8e69-ec9747e66833
Collinson, Morag N.
e1313be8-5065-4e8a-a4df-ccf5bf29d466
Fairhurst, Joanna
2812ed8e-8598-49bc-8919-52fecd2c0fef
Wang, Rubin
73b1893f-625b-409e-981e-8d283e227b57
Wilson, Louise C.
9ddd87d2-0e18-4ca8-b8a9-28ae1dfcc0ab
Foulds, Nicola
5e153e9f-caae-45f5-b6f0-943bd567558e

Ashraf, Tazeen, Collinson, Morag N., Fairhurst, Joanna, Wang, Rubin, Wilson, Louise C. and Foulds, Nicola (2015) Two further patients with the 1q24 deletion syndrome expand the phenotype: A possible role for the miR199-214 cluster in the skeletal features of the condition. American Journal of Medical Genetics Part A, 167 (12), 3153-3160. (doi:10.1002/ajmg.a.37336).

Record type: Article

Abstract

Submicroscopic deletions within chromosome 1q24q25 are associated with a syndromic phenotype of short stature, brachydactyly, learning difficulties, and facial dysmorphism. The critical region for the deletion phenotype has previously been narrowed to a 1.9?Mb segment containing 13 genes. We describe two further patients with 1q24 microdeletions and the skeletal phenotype, the first of whom has normal intellect, whereas the second has only mild learning impairment. The deletion in the first patient is very small and further narrows the critical interval for the striking skeletal aspects of this condition to a region containing only Dynamin 3 (DNM3) and two microRNAs that are harbored within intron 14 of this gene: miR199 and miR214. Mouse studies raise the possibility that these microRNAs may be implicated in the short stature and skeletal abnormalities of this microdeletion condition. The deletion in the second patient spans the previously reported critical region and indicates that the cognitive impairment may not always be as severe as previous reports suggest.

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More information

Accepted/In Press date: 3 September 2015
Published date: December 2015
Keywords: genetics, microdeletion, 1q24, dynamin-3, DNM3, dysmorphology, syndrome, skeletal, phenotype, miR199
Organisations: Human Development & Health

Identifiers

Local EPrints ID: 381352
URI: https://eprints.soton.ac.uk/id/eprint/381352
ISSN: 1552-4825
PURE UUID: 6723caff-7266-425f-890d-02a1c6852e44

Catalogue record

Date deposited: 24 Sep 2015 08:53
Last modified: 17 Jul 2017 20:28

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Contributors

Author: Tazeen Ashraf
Author: Morag N. Collinson
Author: Joanna Fairhurst
Author: Rubin Wang
Author: Louise C. Wilson
Author: Nicola Foulds

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