A Feingold syndrome case with previously undescribed features and a new mutation.
Feingold syndrome (FS) is a dominantly inherited combination of microcephaly with or without learning disabilities, hand and foot abnormalities, short palpebral fissures and esophageal/duodenal atresia. The syndrome has autosomal dominant inheritance with full penetrance, and variable expressivity. Digital anomalies are almost always present. The gene for FS is localized to a 2.2 cM region in 2p23-p24. We report on the first Turkish family with Feingold syndrome. The propositus is a male infant with microcephaly, frontal balding, brachymesophalangy of the second and fifth fingers, bilateral syndactyly of toes 2-3, facial anomalies, choanal atresia and focal epilepsy. His father has microcephaly, and more severe hands and feet abnormalities. One of his brothers died because of eosofageal atresia. Clinical presentation of the family was suggestive of Feingold syndrome, and genetic testing of the MYCN gene confirmed the diagnosis. The missense mutation we report here has not been described previously. FS is an autosomal dominant condition, and therefore, the diagnosis has important implications for genetic counseling.
Department of Medical Genetics, SB Ankara Diskapi Children's Hospital, Ankara, Turkey.
H
H
Koçak
E
E
Ozaydin
G
G
Köse
C L M
CL
Marcelis
E J
EJ
Kamsteeg
S
S
Ceylaner
D000015:Abnormalities, Multiple / Q000175:diagnosis / Q000235:genetics*; D002869:Chromosome Aberrations; D019465:Craniofacial Abnormalities / Q000175:diagnosis / Q000235:genetics; D004386:Duodenum / Q000002:abnormalities*; D004933:Esophageal Atresia / Q000175:diagnosis / Q000235:genetics*; D005385:Fingers / Q000002:abnormalities*; D005799:Genes, Dominant / Q000235:genetics*; D006801:Humans; D007223:Infant; D007409:Intestinal Atresia / Q000175:diagnosis / Q000235:genetics*; D008297:Male; D008831:Microcephaly / Q000175:diagnosis / Q000235:genetics*; D020125:Mutation, Missense / Q000235:genetics*; D000071447:N-Myc Proto-Oncogene Protein; D009687:Nuclear Proteins / Q000235:genetics*; D015513:Oncogene Proteins / Q000235:genetics*; D010641:Phenotype; D013036:Spasms, Infantile / Q000175:diagnosis / Q000235:genetics; D013577:Syndrome; D014421:Turkey
C459801:MYCN protein, human; D000071447:N-Myc Proto-Oncogene Protein; D009687:Nuclear Proteins; D015513:Oncogene Proteins