TY - JOUR
T1 - Expanding the phenotypic spectrum of truncating POGZ mutations
T2 - Association with CNS malformations, skeletal abnormalities, and distinctive facial dysmorphism
AU - Dentici, Maria Lisa
AU - Niceta, Marcello
AU - Pantaleoni, Francesca
AU - Barresi, Sabina
AU - Bencivenga, Paola
AU - Dallapiccola, Bruno
AU - Digilio, Maria Cristina
AU - Tartaglia, Marco
PY - 2017/7/1
Y1 - 2017/7/1
N2 - Exome sequencing has led to the comprehension of the molecular bases of several forms of neurodevelopmental disorders, a clinically heterogeneous group of diseases characterized by intellectual disability (ID) and autism spectrum disorder (ASD). De novo mutations in POGZ has been causally linked to isolated ASD and syndromic ID, only recently. Here we report on a 15 year-old girl in whom exome sequencing allowed to identify a de novo POGZ truncating mutation as the molecular cause underlying a complex phenotype apparently not fitting any recognized syndrome. We describe the evolution of her clinical features with age, and review published clinical data of patients with POGZ mutations to systematically analyze the clinical spectrum associated with mutations. Our finding expands the clinical and molecular spectrum of POGZ mutations. Revision of the literature indicate that moderate to severe ID, microcephaly, variable CNS malformations, reduced growth, brachytelephalangy, and facial dysmorphism represent recurrent features associated with POGZ mutations.
AB - Exome sequencing has led to the comprehension of the molecular bases of several forms of neurodevelopmental disorders, a clinically heterogeneous group of diseases characterized by intellectual disability (ID) and autism spectrum disorder (ASD). De novo mutations in POGZ has been causally linked to isolated ASD and syndromic ID, only recently. Here we report on a 15 year-old girl in whom exome sequencing allowed to identify a de novo POGZ truncating mutation as the molecular cause underlying a complex phenotype apparently not fitting any recognized syndrome. We describe the evolution of her clinical features with age, and review published clinical data of patients with POGZ mutations to systematically analyze the clinical spectrum associated with mutations. Our finding expands the clinical and molecular spectrum of POGZ mutations. Revision of the literature indicate that moderate to severe ID, microcephaly, variable CNS malformations, reduced growth, brachytelephalangy, and facial dysmorphism represent recurrent features associated with POGZ mutations.
KW - brachydactyly
KW - cerebellar hypoplasia
KW - facial dysmorphism
KW - POGZ truncating mutation
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U2 - 10.1002/ajmg.a.38255
DO - 10.1002/ajmg.a.38255
M3 - Article
AN - SCOPUS:85019041573
VL - 173
SP - 1965
EP - 1969
JO - American Journal of Medical Genetics, Part A
JF - American Journal of Medical Genetics, Part A
SN - 1552-4825
IS - 7
ER -