Τίτλος:
Incontinentia pigmenti revisited. A novel nonsense mutation of the IKBKG
gene
Γλώσσες Τεκμηρίου:
Αγγλικά
Περίληψη:
Aim:
To describe and evaluate the clinical and molecular findings of patients
with incontinentia pigmenti (IP) in Greece.
Methods:
We examined 12 female patients, initially aged 2 weeks to 7 months with
clinical diagnosis of IP. Standard tests were performed including skin
biopsies and ocular, dental and neurologic examinations. Molecular
analysis was carried out on 8 out of 12 cases.
Results:
The initial clinical examination was stage 1 (vesicular lesions), stage
2 (verrucous lesions) or stage 3 (hyperpigmented linear lesions of the
trunk/limbs). At the final clinical examination, 10 of our patients had
typical vesicular, verrucous or mixed hyper-hypopigmented skin lesions
which had persisted from the neonatal period; seven had delayed
dentition or conical teeth; two had developmental delay; one had
microcephaly and strabismus and two had scarring alopecia. In seven
patients, deletion of exons 4-10 of the IKBKG gene was found. In one
patient, skewed X-inactivation was demonstrated and a novel mutation
p.Gln332X was found. The mothers’ DNA analyses were all normal.
Conclusion:
In our sample, all the cases were sporadic and the diagnosis of IP was
based mainly on clinical features and confirmed with skin histology.
Molecular analysis was used to find the mutations, in some cases to
confirm diagnosis and to identify the carriers, which are crucial for
prenatal and preimplantation diagnosis.
Συγγραφείς:
Fryssira, Helen
Kakourou, Talia
Valari, Manthoula
Stefanaki,
Kaliopi
Amenta, Stella
Kanavakis, Emmanuel
Περιοδικό:
ACTA PAEDIATRICA SCANDINAVICA
Εκδότης:
WILEY-BLACKWELL PUBLISHING, INC
Λέξεις-κλειδιά:
Incontinentia pigmenti; NF-kappa B essential modulator gene; p; Gln332X
mutation; Skewed X-inactivation
DOI:
10.1111/j.1651-2227.2010.01921.x
