Late infantile Hirschsprung disease–mental retardation syndrome with a 3-bp deletion in ZFHX1B

A 48-year-old woman with late infantile onset mental retardation developed megacolon. Although the patient had no typical clinical features of Hirschsprung disease–mental retardation syndrome, a new 3–base pair deletion, eliminating an Asn, was identified in the responsible gene ZFHX1B. This suggests that screening for ZFHX1B mutations is warranted even in the absence of typical clinical features of the syndrome.

[1]  H. Vinters,et al.  Temporal and extended temporal resections for the treatment of intractable seizures in early childhood. , 1992, Pediatric neurosurgery.

[2]  R. Kato.  [Hirschsprung disease]. , 2001, Ryoikibetsu shokogun shirizu.

[3]  W T Blume,et al.  A randomized, controlled trial of surgery for temporal-lobe epilepsy. , 2001, The New England journal of medicine.

[4]  M. Falconer,et al.  OUTCOME OF SURGERY IN 40 CHILDREN WITH TEMPORAL-LOBE EPILEPSY , 1975, The Lancet.

[5]  A. Munnich,et al.  Large-scale deletions and SMADIP1 truncating mutations in syndromic Hirschsprung disease with involvement of midline structures. , 2001, American journal of human genetics.

[6]  Jerome Engel,et al.  Outcome with respect to epileptic seizures. , 1993 .

[7]  Juan Bulacio,et al.  Seizure outcome after epilepsy surgery in children and adolescents , 1998, Annals of neurology.

[8]  L. Nelles,et al.  SIP1, a Novel Zinc Finger/Homeodomain Repressor, Interacts with Smad Proteins and Binds to 5′-CACCT Sequences in Candidate Target Genes* , 1999, The Journal of Biological Chemistry.

[9]  L. Nelles,et al.  Generation of the floxed allele of the SIP1 (Smad‐interacting protein 1) gene for Cre‐mediated conditional knockout in the mouse , 2002, Genesis.

[10]  B. Levin,et al.  Temporal Lobectomy in Early Childhood , 1992, Epilepsia.

[11]  N. Nomura,et al.  Mutations in SIP1, encoding Smad interacting protein-1, cause a form of Hirschsprung disease , 2001, Nature Genetics.

[12]  R. Shprintzen,et al.  Hirschsprung megacolon and cleft palate in two sibs. , 1981, Journal of craniofacial genetics and developmental biology.

[13]  N. Nomura,et al.  Nonsense and frameshift mutations in ZFHX1B, encoding Smad-interacting protein 1, cause a complex developmental disorder with a great variety of clinical features. , 2001, American journal of human genetics.

[14]  F. Sharbrough,et al.  Assessing changes over time in temporal lobectomy: outcome by scoring seizure frequency 1 Presented at the 48th Annual Scientific Meeting of the American Epilepsy Society, New Orleans, LA. 1 , 1997, Epilepsy Research.

[15]  I. Fried,et al.  Long‐term follow‐up after temporal lobe resection for lesions associated with chronic seizures , 1997, Neurology.

[16]  D. Huylebroeck,et al.  New mode of DNA binding of multi‐zinc finger transcription factors: δEF1 family members bind with two hands to two target sites , 1999, The EMBO journal.

[17]  A. Chakravarti,et al.  A genetic study of Hirschsprung disease. , 1990, American journal of human genetics.

[18]  M. Goossens,et al.  Loss-of-function mutations in SIP1 Smad interacting protein 1 result in a syndromic Hirschsprung disease. , 2001, Human molecular genetics.

[19]  F. Sharbrough,et al.  Temporal lobectomy in children with epilepsy. , 1986, Journal of neurosurgery.