del(17)(p13.3)

The 17p13.3 deletion syndrome (or Miller Dieker syndrome, MDS, MIM 247200) is characterized by lissencephaly, mental retardation and facial dysmorphism.

The phenotype is attributed to haploinsufficiency of two genes present in the minimal critical region of MDS:
 PAFAH1B1 (formerly referred to as LIS1)
 YWHAE.

Whereas isolated PAFAH1B1 deletion causes lissencephaly, YWHAE is a candidate for the dysmorphic phenotype associated with MDS.

Phenotype

 isolated lissencephaly
 Miller-Dieker syndrome
 dysmorphic facial features

References

 Further delineation of the 17p13.3 microdeletion involving YWHAE but distal to PAFAH1B1: Four additional patients. Schiff M, Delahaye A, Andrieux J, Sanlaville D, Vincent-Delorme C, Aboura A, Benzacken B, Bouquillon S, Elmaleh-Berges M, Labalme A, Passemard S, Perrin L, Manouvrier-Hanu S, Edery P, Verloes A, Drunat S. Eur J Med Genet. 2010 Jul 1. PMID: 20599530