A 5.8 kb deletion removing the entire MNX1 gene in a Norwegian family with Currarino syndrome.
Currarino syndrome (CS) is a clinically variable disorder characterized by anorectal, sacral and presacral anomalies. It is associated with loss-of-function mutations in the motor neuron and pancreas homeobox 1 (MNX1) gene. Inheritance is autosomal dominant, expression variable and penetrance incomplete. We describe a Norwegian family with typical CS in which a heterozygous deletion removes the entire MNX1 gene but no other known genes. We also report MNX1 mutations in three other Norwegian families and confirm that the GCC12 repeat (c.373_375[12]) is a normal allelic variant. This work underscores the importance of dosage analysis of MNX1 when Sanger sequencing is negative.
Department of Medical Genetics, Oslo University Hospital, Oslo, Norway. ingunn.holm@medisin.uio.no
Ingunn
I
Holm
Tom
T
Monclair
Tryggve
T
Lundar
Barbro
B
Stadheim
Trine E
TE
Prescott
Kristin L
KL
Eiklid
D000015:Abnormalities, Multiple / Q000235:genetics*; D001003:Anal Canal / Q000002:abnormalities; D004065:Digestive System Abnormalities / Q000235:genetics*; D018398:Homeodomain Proteins / Q000235:genetics*; D006801:Humans; D010641:Phenotype; D012007:Rectum / Q000002:abnormalities; D012447:Sacrum / Q000002:abnormalities; D017384:Sequence Deletion; D013595:Syringomyelia / Q000235:genetics*; D014157:Transcription Factors / Q000235:genetics*
D018398:Homeodomain Proteins; C490003:MNX1 protein, human; D014157:Transcription Factors