Τίτλος:
Cohen syndrome resulting from a novel large intragenic COH1 deletion
segregating in an isolated Greek island population
Γλώσσες Τεκμηρίου:
Αγγλικά
Περίληψη:
Cohen syndrome, caused by mutations in the COH1 gene, is an autosomal
recessive disorder consisting of mental retardation, microcephaly,
growth delay, severe myopia, progressive chorioretinal dystrophy, facial
anomalies, slender limbs with narrow hands and feet, tapered fingers,
short stature, kyphosis and/or scoliosis, pectus carinatum, joint
hypermobility, pes calcaneovalgus, and, variably, truncal obesity. Here,
we describe the clinical and molecular findings in 14 patients from an
isolated Greek island population. The clinical phenotype was fairly
homogeneous, although microcephaly was not constant, and some patients
had severe visual disability. All patients were homozygous for a novel
intragenic COH1 deletion spanning exon 6 to exon 16, Suggesting a
founder effect. The discovers, of this Mutation has made carrier
detection and prenatal diagnosis possible ill this population. (C) 2008
Wiley-Liss, Inc.
Συγγραφείς:
Bugiani, Marianna
Gyftodimou, Yolanda
Tsimpouka, Paraskevi and
Lamantea, Eleonora
Katzaki, Eleni
d'Adamo, Pio
Nakou, Sheena
and Georgoudi, Nelli
Grigoriadou, Maria
Tsina, Efthymia and
Kabolis, Nikolaos
Milani, Donatella
Pandelia, Efthimia and
Kokotas, Haris
Gasparini, Paolo
Giannoulia-Karantana, Aglaia and
Renieri, Alessandra
Zeviani, Massimo
Petersen, Michael B.
Περιοδικό:
American Journal of Medical Genetics. Part A
Λέξεις-κλειδιά:
autosomal recessive inheritance; homozygosity; founder effect;
microcephaly; myopia; chorioretinal dystrophy; slender limbs; narrow
hands and feet; tapered fingers; short stature
DOI:
10.1002/ajmg.a.32239
