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Pancreatic hypoplasia presenting with neonatal diabetes mellitus in association with congenital heart defect and developmental delay

Pancreatic hypoplasia presenting with neonatal diabetes mellitus in association with congenital heart defect and developmental delay
Pancreatic hypoplasia presenting with neonatal diabetes mellitus in association with congenital heart defect and developmental delay
Congenital pancreatic hypoplasia is a rare cause of neonatal diabetes. We report on a series of three patients with pancreatic agenesis and congenital heart defects. All had abdominal scan evidence of pancreatic agenesis. In addition, Patient 1 had a ventricular septal defect, patent ductus arteriosus and pulmonary artery stenosis; Patient 2 had a truncus arteriosus and Patient 3 had tetralogy of Fallot. Two of the three patients have developmental delay. All three patients were isolated cases within the family. Investigations included sequencing of GCK, ABCC8, IPF1, NEUROD1, PTF1A, HNF1B, INS, ISL1, NGN3, HHEX, G6PC2, TCF7L2, SOX4, FOXP3 (Patients 1 and 2), GATA4 and KCNJ11 genes (all three patients), but no mutations were found. Genetic investigation to exclude paternal UPD 6, methylation aberrations and duplications of 6q24 was also negative in all three. 22q11 deletion was excluded in all three patients. Array CGH in Patient (1) showed a 250 kb, paternally inherited duplication of chromosome 12q [arr cgh 12q24.33 (B35:CHR12:131808577-132057649++) pat], not found in the other two patients. Permanent neonatal diabetes mellitus due to pancreatic hypoplasia with congenital heart defects has been reported before and may represent a distinct condition. We discuss this rare association and review previously reported literature.
1552-4825
340-346
Balasubramanian, M.
c00787ad-2d7f-4453-9197-cb35cdf4ab45
Shield, J.P.
dcd75ce0-4f58-43d0-bc8f-3c845e287cfd
Acerini, C.L.
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Walker, J.
991d793e-2b84-403b-a9ee-0a802b90f06d
Ellard, S.
e83de653-52c7-4706-9ddf-da5047a1cef5
Marchand, M.
c1eee4d1-0ef8-4ae4-b9dc-07677dc7f8ae
Polak, M.
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Vaxillaire, M.
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Crolla, J.A.
c5f23751-8de9-4a55-9cc5-ca2fb635769c
Bunyan, D.J.
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Mackay, D.J.
588a653e-9785-4a00-be71-4e547850ee4a
Temple, I.K.
d63e7c66-9fb0-46c8-855d-ee2607e6c226
Balasubramanian, M.
c00787ad-2d7f-4453-9197-cb35cdf4ab45
Shield, J.P.
dcd75ce0-4f58-43d0-bc8f-3c845e287cfd
Acerini, C.L.
1e2ceec4-7217-4eff-bb81-3b5f59d29d66
Walker, J.
991d793e-2b84-403b-a9ee-0a802b90f06d
Ellard, S.
e83de653-52c7-4706-9ddf-da5047a1cef5
Marchand, M.
c1eee4d1-0ef8-4ae4-b9dc-07677dc7f8ae
Polak, M.
3b28b09c-bb1a-4a1c-83e5-52c1a64374c9
Vaxillaire, M.
4bcf1b38-e0c8-4d66-b9a9-9a40214fcba9
Crolla, J.A.
c5f23751-8de9-4a55-9cc5-ca2fb635769c
Bunyan, D.J.
41347b93-e79b-4026-93f9-dd1004cfa05e
Mackay, D.J.
588a653e-9785-4a00-be71-4e547850ee4a
Temple, I.K.
d63e7c66-9fb0-46c8-855d-ee2607e6c226

Balasubramanian, M., Shield, J.P., Acerini, C.L., Walker, J., Ellard, S., Marchand, M., Polak, M., Vaxillaire, M., Crolla, J.A., Bunyan, D.J., Mackay, D.J. and Temple, I.K. (2010) Pancreatic hypoplasia presenting with neonatal diabetes mellitus in association with congenital heart defect and developmental delay. American Journal of Medical Genetics Part A, 152A (2), 340-346. (doi:10.1002/ajmg.a.33194).

Record type: Article

Abstract

Congenital pancreatic hypoplasia is a rare cause of neonatal diabetes. We report on a series of three patients with pancreatic agenesis and congenital heart defects. All had abdominal scan evidence of pancreatic agenesis. In addition, Patient 1 had a ventricular septal defect, patent ductus arteriosus and pulmonary artery stenosis; Patient 2 had a truncus arteriosus and Patient 3 had tetralogy of Fallot. Two of the three patients have developmental delay. All three patients were isolated cases within the family. Investigations included sequencing of GCK, ABCC8, IPF1, NEUROD1, PTF1A, HNF1B, INS, ISL1, NGN3, HHEX, G6PC2, TCF7L2, SOX4, FOXP3 (Patients 1 and 2), GATA4 and KCNJ11 genes (all three patients), but no mutations were found. Genetic investigation to exclude paternal UPD 6, methylation aberrations and duplications of 6q24 was also negative in all three. 22q11 deletion was excluded in all three patients. Array CGH in Patient (1) showed a 250 kb, paternally inherited duplication of chromosome 12q [arr cgh 12q24.33 (B35:CHR12:131808577-132057649++) pat], not found in the other two patients. Permanent neonatal diabetes mellitus due to pancreatic hypoplasia with congenital heart defects has been reported before and may represent a distinct condition. We discuss this rare association and review previously reported literature.

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Published date: February 2010

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Local EPrints ID: 72089
URI: https://eprints.soton.ac.uk/id/eprint/72089
ISSN: 1552-4825
PURE UUID: 9dda1565-841b-40b7-9f74-5ddd8899ec46
ORCID for D.J. Mackay: ORCID iD orcid.org/0000-0003-3088-4401

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Date deposited: 20 Jan 2010
Last modified: 06 Jun 2018 12:54

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Contributors

Author: M. Balasubramanian
Author: J.P. Shield
Author: C.L. Acerini
Author: J. Walker
Author: S. Ellard
Author: M. Marchand
Author: M. Polak
Author: M. Vaxillaire
Author: J.A. Crolla
Author: D.J. Bunyan
Author: D.J. Mackay ORCID iD
Author: I.K. Temple

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