TY - JOUR
T1 - A novel Xp22.11 deletion causing a syndrome of craniosynostosis and periventricular nodular heterotopia
AU - van Kogelenberg, Margriet
AU - Lerone, Margherita
AU - De Toni, Teresa
AU - Divizia, Maria T.
AU - de Brouwer, Arjan P M
AU - Veltman, Joris A.
AU - van Bokhoven, Hans
AU - Robertson, Stephen P.
PY - 2011/12
Y1 - 2011/12
N2 - We report on a follow-up evaluation of a male with a phenotype including craniosynostosis, periventricular nodular heterotopia, and neurodevelopmental delay. He was initially assigned a clinical diagnosis of Fontaine-Farriaux syndrome (FFS) as an infant although now, with improved delineation of this entity, it is evident that this diagnosis is not applicable to this individual. Array comparative genomic hybridization has demonstrated a 300kb interstitial deletion on Xp22.11 affecting all or part of three annotated genes, ZFX, PDK3, and PCYT1B in this subject. The deletion was inherited from the phenotypically normal mother who also exhibited markedly skewed X-inactivation. These findings implicate hemizygosity for one or all three of these genes as the cause of this phenotype.
AB - We report on a follow-up evaluation of a male with a phenotype including craniosynostosis, periventricular nodular heterotopia, and neurodevelopmental delay. He was initially assigned a clinical diagnosis of Fontaine-Farriaux syndrome (FFS) as an infant although now, with improved delineation of this entity, it is evident that this diagnosis is not applicable to this individual. Array comparative genomic hybridization has demonstrated a 300kb interstitial deletion on Xp22.11 affecting all or part of three annotated genes, ZFX, PDK3, and PCYT1B in this subject. The deletion was inherited from the phenotypically normal mother who also exhibited markedly skewed X-inactivation. These findings implicate hemizygosity for one or all three of these genes as the cause of this phenotype.
KW - Craniosynostosis
KW - Fontaine-Farriaux syndrome
KW - Periventricular nodular heterotopia
KW - X chromosomal interstitial deletion
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U2 - 10.1002/ajmg.a.34311
DO - 10.1002/ajmg.a.34311
M3 - Article
C2 - 22052819
AN - SCOPUS:81955167392
VL - 155
SP - 3144
EP - 3147
JO - American Journal of Medical Genetics, Part A
JF - American Journal of Medical Genetics, Part A
SN - 1552-4825
IS - 12
ER -