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17p13.3 deletion syndrome

MIM.247200

Sunday 11 July 2010

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#