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A case report of primary ciliary dyskinesia, laterality defects and developmental delay caused by the co-existence of a single gene and chromosome disorder

A case report of primary ciliary dyskinesia, laterality defects and developmental delay caused by the co-existence of a single gene and chromosome disorder
A case report of primary ciliary dyskinesia, laterality defects and developmental delay caused by the co-existence of a single gene and chromosome disorder
We report on a variable and complex phenotype caused by the co-inheritance of a single gene mutation in CCDC103 and a microduplication at 17q12, both on chromosome 17. The co-existence of a single gene and chromosome disorder is unusual but accounts for the spectrum of clinical features in this family. In addition, our study brings the total number of PCD genes in the Irish Traveller population to four and we suspect additional PCD genes are yet to be identified. Although, on a global scale, PCD is associated with extensive genetic heterogeneity, finding such a high number of causative PCD genes within the relatively small Irish Traveller population was unexpected.
primary ciliary dyskinesia, laterality defects, developmental delay, single gene disorder, chromosome disorder, microduplication syndrome
1471-2350
1-9
Casey, Jillian P.
c8a050de-8777-43f0-9ba4-2d80f35fb635
Goggin, Patricia
c2d225c4-b84d-4ead-a433-320057cb5fa9
McDaid, Jennifer
56c61506-3b76-437f-a8c5-86e5ae92b800
White, Martin
bd733033-deff-4625-b6a5-012af7efc395
Ennis, Sean
2df6849c-255b-4cc4-b190-2ae4bf5ade82
Betts, David R.
e1cfb8b2-e524-4b02-8ced-3fc2e0121bba
Lucas, Jane S.
5cb3546c-87b2-4e59-af48-402076e25313
Elnazir, Basil
eea1f7a7-a05b-4528-92bb-b92e7a37c030
Lynch, Sally Ann
3e7a6df5-c966-4fde-b3ac-df1f6d38df0a
Casey, Jillian P.
c8a050de-8777-43f0-9ba4-2d80f35fb635
Goggin, Patricia
c2d225c4-b84d-4ead-a433-320057cb5fa9
McDaid, Jennifer
56c61506-3b76-437f-a8c5-86e5ae92b800
White, Martin
bd733033-deff-4625-b6a5-012af7efc395
Ennis, Sean
2df6849c-255b-4cc4-b190-2ae4bf5ade82
Betts, David R.
e1cfb8b2-e524-4b02-8ced-3fc2e0121bba
Lucas, Jane S.
5cb3546c-87b2-4e59-af48-402076e25313
Elnazir, Basil
eea1f7a7-a05b-4528-92bb-b92e7a37c030
Lynch, Sally Ann
3e7a6df5-c966-4fde-b3ac-df1f6d38df0a

Casey, Jillian P., Goggin, Patricia, McDaid, Jennifer, White, Martin, Ennis, Sean, Betts, David R., Lucas, Jane S., Elnazir, Basil and Lynch, Sally Ann (2015) A case report of primary ciliary dyskinesia, laterality defects and developmental delay caused by the co-existence of a single gene and chromosome disorder. BMC Medical Genetics, 16 (45), 1-9. (doi:10.1186/s12881-015-0192-z). (PMID:26123568)

Record type: Article

Abstract

We report on a variable and complex phenotype caused by the co-inheritance of a single gene mutation in CCDC103 and a microduplication at 17q12, both on chromosome 17. The co-existence of a single gene and chromosome disorder is unusual but accounts for the spectrum of clinical features in this family. In addition, our study brings the total number of PCD genes in the Irish Traveller population to four and we suspect additional PCD genes are yet to be identified. Although, on a global scale, PCD is associated with extensive genetic heterogeneity, finding such a high number of causative PCD genes within the relatively small Irish Traveller population was unexpected.

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Accepted/In Press date: 22 June 2015
Published date: 30 June 2015
Keywords: primary ciliary dyskinesia, laterality defects, developmental delay, single gene disorder, chromosome disorder, microduplication syndrome
Organisations: Clinical & Experimental Sciences

Identifiers

Local EPrints ID: 386378
URI: https://eprints.soton.ac.uk/id/eprint/386378
ISSN: 1471-2350
PURE UUID: a78b38d4-6aa6-4af6-b2d6-1fc854f5b4a3

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Date deposited: 01 Feb 2016 11:28
Last modified: 19 Jul 2019 20:20

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