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Title: A syndromic form of Pierre Robin sequence is caused by 5q23 deletions encompassing FBN2 and PHAX
Authors: Ansari, Morad ×
Rainger, Jacqueline K
Murray, Jennie E
Hanson, Isabel
Firth, Helen V
Mehendale, Felicity
Amiel, Jeanne
Gordon, Christopher T
Percesepe, Antonio
Mazzanti, Laura
Fryer, Alan
Ferrari, Paola
Devriendt, Koenraad
Temple, I Karen
FitzPatrick, David R #
Issue Date: Oct-2014
Publisher: Elsevier
Series Title: European Journal of Medical Genetics vol:57 issue:10 pages:587-95
Article number: S1769-7212(14)00167-0
Abstract: Pierre Robin sequence (PRS) is an etiologically distinct subgroup of cleft palate. We aimed to define the critical genomic interval from five different 5q22-5q31 deletions associated with PRS or PRS-associated features and assess each gene within the region as a candidate for the PRS component of the phenotype. Clinical array-based comparative genome hybridisation (aCGH) data were used to define a 2.08 Mb minimum region of overlap among four de novo deletions and one mother-son inherited deletion associated with at least one component of PRS. Commonly associated anomalies were talipes equinovarus (TEV), finger contractures and crumpled ear helices. Expression analysis of the orthologous genes within the PRS critical region in embryonic mice showed that the strongest candidate genes were FBN2 and PHAX. Targeted aCGH of the critical region and sequencing of these genes in a cohort of 25 PRS patients revealed no plausible disease-causing mutations. In conclusion, deletion of ∼2 Mb on 5q23 region causes a clinically recognisable subtype of PRS. Haploinsufficiency for FBN2 accounts for the digital and auricular features. A possible critical region for TEV is distinct and telomeric to the PRS region. The molecular basis of PRS in these cases remains undetermined but haploinsufficiency for PHAX is a plausible mechanism.
URI: 
ISSN: 1769-7212
Publication status: published
KU Leuven publication type: IT
Appears in Collections:Department of Human Genetics - miscellaneous
× corresponding author
# (joint) last author

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